NDDVD - Neurodegenerative Diseases Variation Database
CDKL5 (cyclin-dependent kinase-like 5)
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Curator:
Y Yang
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View all variants affecting transcripts
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All individuals with variants in gene CDKL5
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
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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.
65 entries on 1 page. Showing entries 1 - 65.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00004150
Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009)
-
-
RTT
-
1
1
Y Yang
00004151
Nemos C1, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.(2009)
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-
RTT
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1
1
Y Yang
00004152
"
White R1, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J(2010)
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RTT
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1
1
Y Yang
00004153
"
White R1, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J(2010)
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RTT
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1
1
Y Yang
00004154
"
White R1, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J(2010)
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-
RTT
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1
1
Y Yang
00004155
Saletti V1, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.(2009)
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-
RTT
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1
1
Y Yang
00004156
"
Weaving LS1, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H(2004)
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-
RTT
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1
1
Y Yang
00004157
"
Weaving LS1, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H(2004)
-
-
RTT
-
1
1
Y Yang
00004158
Tao J1, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM.(2004)
-
-
RTT
-
1
1
Y Yang
00004159
Tao J1, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM.(2004)
-
-
RTT
-
1
1
Y Yang
00004160
Scala E1, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.(2005)
-
-
RTT
-
1
1
Y Yang
00004161
Nectoux J1, Heron D, Tallot M, Chelly J, Bienvenu T.(2006)
-
-
RTT
-
1
1
Y Yang
00004162
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
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1
1
Y Yang
00004163
Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.(2008)
-
-
RTT
-
1
1
Y Yang
00004164
Saletti V1, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.(2009)
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RTT
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1
1
Y Yang
00004165
Elia M1, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.(2008)
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-
RTT
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1
1
Y Yang
00004166
Elia M1, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.(2008)
-
-
RTT
-
1
1
Y Yang
00004167
Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009)
-
-
RTT
-
1
1
Y Yang
00004168
Nemos C1, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.(2009)
-
-
RTT
-
1
1
Y Yang
00004169
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004170
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004171
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004172
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004173
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004174
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004175
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004176
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004177
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
-
-
RTT
-
1
1
Y Yang
00004178
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004179
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004180
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004181
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004182
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004183
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004184
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004185
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004186
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004187
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004188
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004189
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004190
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004191
"
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005)
-
-
RTT
-
1
1
Y Yang
00004192
-
-
-
RTT
-
1
1
Y Yang
00004193
Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009)
-
-
RTT
-
1
1
Y Yang
00004194
Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009)
-
-
RTT
-
1
1
Y Yang
00004195
Sprovieri T1, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.(2009)
-
-
RTT
-
1
1
Y Yang
00004196
Sartori S1, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.(2009)
-
-
RTT
-
1
1
Y Yang
00004197
Psoni S1, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J, Sofokleous C, Makrythanassis P, Kitsiou-Tzeli S.(2010)
-
-
RTT
-
1
1
Y Yang
00004198
Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009)
-
-
RTT
-
1
1
Y Yang
00004199
Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009)
-
-
RTT
-
1
1
Y Yang
00004267
Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013)
Indian
-
RTT
-
1
1
Y Yang
00004268
Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013)
Indian
-
RTT
-
1
1
Y Yang
00004269
Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013)
Indian
-
RTT
-
1
1
Y Yang
00004270
Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013)
Indian
-
RTT
-
1
1
Y Yang
00004271
Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013)
Indian
-
RTT
-
1
1
Y Yang
00004272
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004273
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004274
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004275
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004276
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004277
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004278
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Chinese
-
RTT
-
1
1
Y Yang
00004299
"
Livide G1, Patriarchi T2, Amenduni M1, Amabile S1, Yasui D3, Calcagno E4, Lo Rizzo C1, De Falco G5, Ulivieri C6, Ariani F1, Mari F7, Mencarelli MA7, Hell JW8, Renieri A7(2015)
-
-
RTT
-
1
1
Y Yang
00004300
"
Livide G1, Patriarchi T2, Amenduni M1, Amabile S1, Yasui D3, Calcagno E4, Lo Rizzo C1, De Falco G5, Ulivieri C6, Ariani F1, Mari F7, Mencarelli MA7, Hell JW8, Renieri A7(2015)
-
-
RTT
-
1
1
Y Yang
00005848
Christianto A et al. (2016)
-
-
RTT
-
1
1
XY Liu
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