Primary lymphoedemaGene: SHANK3
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, 1:25 p.m. | Last Modified: 24 Jul 2019, 1:25 p.m.
Panel Version: 1.96
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in unrelated cases. Gen2Phen list lymphedema and palpebral edema amongst the phenotypic features.
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.
Panel Version: 1.88
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phelan-McDermid syndrome 606232
Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232
Gene: shank3 has been classified as Green List (High Evidence).
gene: SHANK3 was added gene: SHANK3 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown