Primary lymphoedemaGene: MPI
PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with a condition on G2P).
Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 22 Aug 2019, 1:36 p.m.
Panel Version: 1.105
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type Ib 602579
Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
gene: MPI was added gene: MPI was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal