Primary lymphoedemaGene: PMM2
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported.
Created: 24 Jul 2019, 1:26 p.m. | Last Modified: 24 Jul 2019, 1:26 p.m.
Panel Version: 1.97
Includes nonimmune hydrops fetalis. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type Ia 212065
Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Gene: pmm2 has been classified as Green List (High Evidence).
Publications for gene: PMM2 were set to
gene: PMM2 was added gene: PMM2 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal