Pigmentary skin disorders

Gene: PMS2

Green List (high evidence)

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 32 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MISMATCH REPAIR CANCER SYNDROME, 276300

Publications

Catherine Snow (Genomics England)

Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change PMS2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Created: 28 Nov 2019, 2:24 p.m. | Last Modified: 28 Nov 2019, 2:24 p.m.
Panel Version: 0.20

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PMS2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: PMS2 Publications for gene PMS2 were changed from to 10763829

28 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to PMS2.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PMS2 was added gene: PMS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300