Primary lymphoedema

Gene: GJA1

Green List (high evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 22 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
oculodentodigital syndrome with primary lymphoedema

Publications

Sarah Leigh (Genomics England Curator)

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.

History Filter Activity

19 Jun 2019, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia with primary lymphoedem 164200 to Oculodentodigital dysplasia 164200

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to GJA1. 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

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GJA1 were set to Oculodentodigital dysplasia with primary lymphoedem 164200

2 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GJA1 were set to 23550541

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GJA1 was created by sleigh

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GJA1 was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green