Genomics England

GJC2

gap junction protein gamma 2

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 2, 608804,
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 44, autosomal recessive, 613206, Leukodystrophy, hypomyelinating, 2, 608804
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SPASTIC PARAPLEGIA, 44 613206, LEUKODYSTROPHY, HYPOMYELINATING, 2 608804, LYMPHEDEMA, HEREDITARY, IC 613480
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes LYMPHEDEMA, HEREDITARY, IC, LEUKODYSTROPHY, HYPOMYELINATING, 2, SPASTIC PARAPLEGIA, 44
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 2, Spastic paraplegia 44, 613206, Hypomyelinating leukodystrophy 2, 608804, Autosomal Recessive Ataxia
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 2, OMIM:608804
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Lymphedema, hereditary, IC, 613480
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 44, autosomal recessive, 613206, Leukodystrophy, hypomyelinating, 2, 608804, Lymphedema, hereditary, IC, 613480