GJA1

gap junction protein alpha 1
OMIM: 121014
PanelMode of inheritanceDetails
15 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Oculodentodigital dysplasia, OMIM:164200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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, R412
Signed-off version 2.1
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: R60
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia, OMIM:164200, Spastic paraplegia
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia, OMIM:164200, Spastic paraplegia
R-numbers: R165
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 3, OMIM:617525, Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400, Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850, Syndactyly, type III, OMIM:186100
R-numbers: R166
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrokeratodermia variabilis et progressiva 3, OMIM:617525, Palmoplantar keratoderma with congenital alopecia, OMIM:104100, Oculodentodigital dysplasia, OMIM:164200
R-numbers: R236
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 3, OMIM:617525, Palmoplantar keratoderma with congenital alopecia, OMIM:104100
R-numbers: R136
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Oculodentodigital dysplasia, OMIM:164200
R-numbers: R332
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400, Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850, Syndactyly, type III, OMIM:186100
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
R-numbers: R62
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850