Sarcoma susceptibility
Gene: PMS2Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337Created: 12 Mar 2021, 10:50 a.m. | Last Modified: 12 Mar 2021, 10:50 a.m.
Panel Version: 1.45
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mismatch repair cancer syndrome, 276300
Constitutional mismatch repair deficiency is associated with a wide range of tumour types. Rhabdomyosarcoma is reported, however infrequently. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mismatch repair cancer syndrome, 276300
Phenotypes for gene: PMS2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 4, OMIM:619101; Rhabdomyosarcoma (disease), MONDO:0005212
Source NHS GMS was added to PMS2.
gene: PMS2 was added gene: PMS2 was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMS2 were set to 27050224 Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300