Primary lymphoedemaGene: GJC2
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 613206
Created: 2 Nov 2016, 10:39 a.m.
Source London South GLH was added to GJC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GJC2 were set to Lymphedema, hereditary, IC, 613480
GJC2 was created by sleigh
GJC2 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green