Pigmentary skin disordersGene: PMS2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
MISMATCH REPAIR CANCER SYNDROME, 276300
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
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.
Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: PMS2 Publications for gene PMS2 were changed from to 10763829
Mode of inheritance for gene: PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Source London North GLH was added to PMS2.
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