GJC2

gap junction protein gamma 2
OMIM: 608803
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia
R-numbers: R57
Signed-off version 1.137
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 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA, 44 613206, LEUKODYSTROPHY, HYPOMYELINATING, 2 608804, LYMPHEDEMA, HEREDITARY, IC 613480
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
LYMPHEDEMA, HEREDITARY, IC, LEUKODYSTROPHY, HYPOMYELINATING, 2, SPASTIC PARAPLEGIA, 44
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 2, Spastic paraplegia 44, 613206, Hypomyelinating leukodystrophy 2, 608804, Autosomal Recessive Ataxia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 2, 608804Spastic paraplegia 44, autosomal recessive, 613206Lymphedema, hereditary, IC, 613480, LYMPHEDEMA, HEREDITARY, IC
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lymphedema, hereditary, IC, 613480
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 2, 608804,
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 44, autosomal recessive, 613206, Leukodystrophy, hypomyelinating, 2, 608804, Lymphedema, hereditary, IC, 613480