Primary lymphoedema

Gene: PMM2

Green List (high evidence)

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Congenital disorder of glycosylation, type Ia 212065

Publications

History Filter Activity

4 Sep 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065

24 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pmm2 has been classified as Green List (High Evidence).

24 Jul 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PMM2 were set to

23 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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