Genomics England

GJA1

gap junction protein alpha 1

Panel	Mode of inheritance	Details
Filter panels15 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Oculodentodigital dysplasia, OMIM:164200, Spastic paraplegia
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Oculodentodigital dysplasia, OMIM:164200, Spastic paraplegia
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	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 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, HYPOPLASTIC LEFT HEART SYNDROME, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, HALLERMANN-STREIFF SYNDROME
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525, Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	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
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	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
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525, Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Oculodentodigital dysplasia, OMIM:164200
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	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
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Oculodentodigital dysplasia, OMIM:164200, Oculodentodigital dysplasia, autosomal recessive, OMIM:257850