GJC2

gap junction protein gamma 2
OMIM: 608803, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green GJC2 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 Leukodystrophy, hypomyelinating, 2, 608804 Lymphedema, hereditary, IC, 613480
Green GJC2 in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia
Green GJC2 in Adult onset leukodystrophy Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukodystrophy, hypomyelinating, 2, 608804,
Green GJC2 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 2
Green GJC2 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 Spastic paraplegia 44, autosomal recessive, 613206 Lymphedema, hereditary, IC, 613480
Red GJC2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spastic paraplegia 44, autosomal recessive
Amber GJC2 in Childhood onset hereditary spastic paraplegia Version 4.42 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 44, autosomal recessive Leukodystrophy, hypomyelinating,2, 608804, AR Spastic paraplegia 44, autosomal recessive, 613206, AR Lymphatic malformation 3, 613480, AD
Amber GJC2 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 44, autosomal recessive Spastic paraplegia 44, autosomal recessive 613206, AR Leukodystrophy, hypomyelinating, 2, 608804, AR
Red GJC2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, autosomal recessive
Green GJC2 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LYMPHEDEMA, HEREDITARY, IC LEUKODYSTROPHY, HYPOMYELINATING, 2 SPASTIC PARAPLEGIA, 44
Green GJC2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA, 44 613206 LEUKODYSTROPHY, HYPOMYELINATING, 2 608804 LYMPHEDEMA, HEREDITARY, IC 613480
Green GJC2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 Leukodystrophy, hypomyelinating, 2, 608804 Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy
Green GJC2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 2, OMIM:608804
Green GJC2 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Leukodystrophy, hypomyelinating, 2 Spastic paraplegia 44, 613206 Hypomyelinating leukodystrophy 2, 608804 Autosomal Recessive Ataxia
Green GJC2 in Primary lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 3.11 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lymphedema, hereditary, IC, 613480
Amber GJC2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy Spastic paraplegia 44, autosomal recessive, 613206
Green GJC2 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 Leukodystrophy, hypomyelinating, 2, 608804
Green GJC2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 44, autosomal recessive, 613206 Lymphatic malformation 3, 613480 Leukodystrophy, hypomyelinating, 2, 608804