GJA1

gap junction protein alpha 1
OMIM: 121014
PanelMode of inheritanceDetails
13 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
Oculodentodigital dysplasia,164200, ODDD
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HALLERMANN-STREIFF SYNDROME 234100, HYPOPLASTIC LEFT HEART SYNDROME 241550, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850, SYNDACTYLY TYPE 3 186100
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, HYPOPLASTIC LEFT HEART SYNDROME, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, HALLERMANN-STREIFF SYNDROME
R-numbers: R165
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
keratoderma, hypotrichosis and leukonychia, Palmoplantar keratoderma with congenital alopecia, 104100, Erythrokeratoderma, Erythrokeratodermia variabilis et progressiva 3, 617525, Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma, Palmoplantar keratoderma
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniometaphyseal dysplasia, autosomal recessive 218400, Erythrokeratodermia variabilis et progressiva 133200, Hypoplastic left heart syndrome 1 241550, Oculodentodigital dysplasia 164200, Oculodentodigital dysplasia, autosomal recessive 257850, Palmoplantar keratoderma with congenital alopecia 104100, Syndactyly, type III 186100
R-numbers: R166
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Palmoplantar keratoderma
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Oculodentodigital dysplasia 164200
R-numbers: R332
Signed-off version 1.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, EKVP3
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia 164200, Syndactyly, type III 186100, Erythrokeratodermia variabilis et progressiva 133200, Palmoplantar keratoderma with congenital alopecia 104100, Oculodentodigital dysplasia, autosomal recessive 257850, Craniometaphyseal dysplasia, autosomal recessive 218400, Hypoplastic left heart syndrome 1 241550
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
open angle glaucoma (OAG) and microcornea, Oculodentodigital dysplasia
R-numbers: R62
Signed-off version 1.25
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia, autosomal recessive 257850, Oculodentodigital dysplasia (AD) 164200