ACTB

PanelMode of inheritanceDetails
10 panels
R-numbers: R56
Signed-off version 1.121
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia, juvenile-onset, OMIM:607371, developmental malformations-deafness-dystonia syndrome MONDO:0011823, Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
R-numbers: R90
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
(NO OMIM NUMBER), AD thrombocytopenia
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Dystonia, juvenile-onset, Baraitser-Winter syndrome 1, 243310
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BARAITSER-WINTER SYNDROME 1, BRWS1
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BARAITSER-WINTER SYNDROME, ACTB Haploinsufficiency syndtome
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BARAITSER-WINTER SYNDROME, ACTB Haploinsufficiency syndtome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310, BARAITSER-WINTER SYNDROME
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, 243310