Primary lymphoedema

Gene: MPI

Red List (low evidence)

MPI (mannose phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

History Filter Activity

24 Dec 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257

23 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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