NDDVD - Neurodegenerative Diseases Variation Database
MECP2 (methyl CpG binding protein 2)
LOVD v.3.0 Build 29 [
Current LOVD status
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Curator:
Y Yang
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View all transcripts of gene MECP2
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View all variants affecting transcripts
View unique variants in gene MECP2
View all variants in gene MECP2
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View all individuals with variants in gene MECP2
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View all diseases
View all diseases associated with gene MECP2
Create a new disease information entry
View available phenotype columns
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View all screenings for gene MECP2
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Submit new data
All individuals with variants in gene MECP2
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
298 entries on 3 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00003946
Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)
-
-
RTT
-
1
1
Y Yang
00003947
Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)
-
-
RTT
-
1
1
Y Yang
00003948
Wan M1, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.(1999)
-
-
RTT
-
1
1
Y Yang
00003949
Huppke P1, Laccone F, Kr?mer N, Engel W, Hanefeld F.(2000)
-
-
RTT
-
1
1
Y Yang
00003950
Huppke P1, Laccone F, Kr?mer N, Engel W, Hanefeld F.(2000)
-
-
RTT
-
1
1
Y Yang
00003951
Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)
-
-
RTT
-
1
1
Y Yang
00003952
Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)
-
-
RTT
-
1
1
Y Yang
00003953
De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)
-
-
RTT
-
1
1
Y Yang
00003954
De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)
-
-
RTT
-
1
1
Y Yang
00003955
De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)
-
-
RTT
-
1
1
Y Yang
00003956
De Bona C1, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R(2000)
-
-
RTT
-
1
1
Y Yang
00003957
Bourdon V1, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P.(2001)
-
-
RTT
-
1
1
Y Yang
00003958
Nielsen JB1, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N.(2001)
-
-
RTT
-
1
1
Y Yang
00003959
Wan M1, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.(1999)
-
-
RTT
-
1
1
Y Yang
00003960
Amir RE1, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.(1999)
-
-
RTT
-
1
1
Y Yang
00003961
Watson P1, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J.(2001)
-
-
RTT
-
1
1
Y Yang
00003962
Watson P1, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J.(2001)
-
-
RTT
-
1
1
Y Yang
00003963
Maiwald R, B?nte A, Jung H, Bitter P, Storm Z, Laccone F, Herkenrath P.(2002)
-
-
RTT
-
1
1
Y Yang
00003964
Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)
-
-
RTT
-
1
1
Y Yang
00003965
Mnatzakanian GN1, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA.(2004)
-
-
RTT
-
1
1
Y Yang
00003966
Ravn K, Nielsen JB, Schwartz M.(2005)
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RTT
-
1
1
Y Yang
00003967
Geerdink N1, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabre?ls FJ, Mullaart RA, Hamel BC.(2002)
-
-
RTT
-
1
1
Y Yang
00003968
Adegbola AA1, Gonzales ML, Chess A, LaSalle JM, Cox GF.(2009)
-
-
RTT
-
1
1
Y Yang
00003969
Freilinger M, Berndt A, Haas OA.(2009)
-
-
RTT
-
1
1
Y Yang
00003970
Kim SJ1, Cook EH Jr.(2000)
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-
RTT
-
1
1
Y Yang
00003971
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003972
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003973
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003974
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003975
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003976
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003977
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003978
Xiang F1, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.(2000)
-
-
RTT
-
1
1
Y Yang
00003979
Fendri-Kriaa N1, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R, Slama F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation.(2010)
-
-
RTT
-
1
1
Y Yang
00003980
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003981
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003982
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003983
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003984
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003985
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003986
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003987
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003988
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003989
Bienvenu T1, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.(2000)
-
-
RTT
-
1
1
Y Yang
00003990
Meloni I1, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A.(2000)
-
-
RTT
-
1
1
Y Yang
00003991
Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.(2000)
-
-
RTT
-
1
1
Y Yang
00003992
Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.(2000)
-
-
RTT
-
1
1
Y Yang
00003993
Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.(2000)
-
-
RTT
-
1
1
Y Yang
00003994
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00003995
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00003996
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00003997
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00003998
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00003999
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00004000
Cheadle JP1, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.(2000)
-
-
RTT
-
1
1
Y Yang
00004001
Hampson K, Woods CG, Latif F, Webb T.(2000)
-
-
RTT
-
1
1
Y Yang
00004002
Hampson K, Woods CG, Latif F, Webb T.(2000)
-
-
RTT
-
1
1
Y Yang
00004003
Orrico A1, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V.(2000)
-
-
RTT
-
1
1
Y Yang
00004004
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004005
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004006
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004007
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004008
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004009
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004010
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004011
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004012
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004013
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004014
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004015
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004016
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004017
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004018
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004019
Nectoux J et al. (2006)
-
-
RTT
-
1
1
Y Yang
00004020
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004021
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004022
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004023
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004024
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004025
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004026
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004027
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004028
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004029
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004030
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004031
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004032
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004033
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004034
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004035
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004036
Dragich J1, Houwink-Manville I, Schanen C.(2000)
-
-
RTT
-
1
1
Y Yang
00004037
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004038
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004039
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004040
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
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1
1
Y Yang
00004041
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004042
Dragich J1, Houwink-Manville I, Schanen C.(2000)
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-
RTT
-
1
1
Y Yang
00004043
Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)
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-
RTT
-
1
1
Y Yang
00004044
Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)
-
-
RTT
-
1
1
Y Yang
00004045
Buyse IM1, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.(2000)
-
-
RTT
-
1
1
Y Yang
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