Childhood solid tumours
Gene: BMPR1A
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
BMPR1A is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of different germline variants associated with patients who have juvenile polyposis. Normal controls did not have any variants in BMPR1A. Therefore, there is enough evidence for this gene to be promoted to green status.Created: 25 Jun 2019, 9:45 a.m. | Last Modified: 25 Jun 2019, 9:45 a.m.
Panel Version: 1.24
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Mixed Polyposis Syndrome
Source NHS GMS was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditary Mixed Polyposis Syndrome for gene: BMPR1A Publications for gene BMPR1A were changed from 23539595; 12136244; 11536076; 11381269 to 23539595
Source Expert list was added to BMPR1A. Source Expert Review Green was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hereditary Mixed Polyposis Syndrome 2, 610069; Polyposis, juvenile intestinal, 174900 for gene: BMPR1A Publications for gene BMPR1A were changed from to 23539595; 12136244; 11536076; 11381269 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: BMPR1A was added gene: BMPR1A was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: BMPR1A was set to