ACTG1

PanelMode of inheritanceDetails
7 panels
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 2, BRWS2
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
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BARAITSER-WINTER SYNDROME
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hearing loss, Deafness, autosomal dominant 20/26, 604717, Baraitser-Winter syndrome 2, 614583, #604717, Hearing loss, sensorineural, bilateral, progressive, Hearing loss begins with loss of high frequencies, Audiogram shows sloping configuration, Deafness, profound, by 6th decade, Trigonocephaly/metopic ridge, Prominent/full/wide cheeks, Pointed chin, Retrognathia (in some patients), Abnormally shaped ears, Deafness (in some patients), Microphthalmia (in some patients), Arched eyebrows, Long palpebral fissures, Eye coloboma (in some patients), Hypertelorism/telecanthus, Ptosis, Short, upturned nose, Large, squared nose tip, Prominent nasal root on profile, Thick/prominent/everted lower lipCleft lip/palate (in some patients), Long philtrum, Thin upper lip, Large mouth, Short neck (in some patients), Pterygium colli (in some patients), Heart defect (in some patients), Kyphosis/scoliosis (in some patients), Pectus (in some patients), Enlarged ventricles (in some patients), Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients), Epilepsy
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
Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583, 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
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 2, 614583