Primary lymphoedemaGene: GJA1
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
oculodentodigital syndrome with primary lymphoedema
Comment on phenotypes: Also associated with Atrioventricular septal defect 3 600309, Craniometaphyseal dysplasia, autosomal recessive 218400, Erythrokeratodermia variabilis et progressiva 133200, Hypoplastic left heart syndrome 1 241550, Oculodentodigital dysplasia, autosomal recessive 257850, Palmoplantar keratoderma with congenital alopecia 104100, Syndactyly, type III 186100
Created: 2 Nov 2016, 9:35 a.m.
Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia with primary lymphoedem 164200 to Oculodentodigital dysplasia 164200
Source London South GLH was added to GJA1. 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
Phenotypes for GJA1 were set to Oculodentodigital dysplasia with primary lymphoedem 164200
Publications for GJA1 were set to 23550541
GJA1 was created by sleigh
GJA1 was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green