Endocrine neoplasms

Gene: PMS2

Amber List (moderate evidence)

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 35 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert Review
Created: 16 Feb 2021, 10:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

History Filter Activity

23 Mar 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PMS2. Tag Q2_21_NHS_review tag was added to gene: PMS2.

16 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pms2 has been classified as Amber List (Moderate Evidence).

16 Feb 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PMS2 was added gene: PMS2 was added to Endocrine neoplasms. Sources: Expert Review Q2_21_phenotype tags were added to gene: PMS2. Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PMS2 was set to AMBER