Primary lymphoedema
Gene: GJC2
GJC2 (gap junction protein gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Pia Ostergaard (St George's)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Two variants reported in at least five unrelated cases.Created: 2 Nov 2016, 10:44 a.m.
Comment on phenotypes: Also associated with Leukodystrophy, hypomyelinating, 2 608804 and Spastic paraplegia 44, autosomal recessive 613206Created: 2 Nov 2016, 10:39 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lymphedema, hereditary, IC, 613480
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Inherited white matter disorders
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
20 Feb 2019, Gel status: 3
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to GJC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
2 Nov 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
2 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Nov 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJC2 were set to Lymphedema, hereditary, IC, 613480
30 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)GJC2 was created by sleigh
30 Sep 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)GJC2 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green