Congenital hyperinsulinism

Gene: PMM2

Green List (high evidence)

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperinsulinemic Hypoglycaemia; polycystic kidney disease

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). PMM2 is a green gene on Congenital disorders of glycosylation (Version 1.21), Inborn errors of metabolism (Version 1.46) and Undiagnosed metabolic disorders (Version 1.90) panels.
Created: 28 Jan 2019, 10:52 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PMM2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal recessive Hyperinsulinemic Hypoglycaemia and polycystic kidney disease.
Created: 11 Jan 2019, 2:24 p.m.

History Filter Activity

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

28 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PMM2 were changed from to Hyperinsulinemic Hypoglycaemia; polycystic kidney disease

28 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PMM2 were set to

28 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PMM2 was added gene: PMM2 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: PMM2 was set to