Lymphoedema_syndromic

Gene: GJA1

Green List (high evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels

0 reviews

History Filter Activity

29 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sue White (Victorian Clinical Genetics Services)

gene: GJA1 was added gene: GJA1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA1 were set to 23550541 Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200