Childhood solid tumours
Gene: SMARCA4
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
predisposition to small cell ca Ovary with hypercalcemia
Comment on list classification: Rhabdoid tumour predispositionCreated: 7 Mar 2016, 11:52 p.m.
Phenotypes for gene: SMARCA4 were changed from 613325; predisposition to small cell ca; Ovary with hypercalcemia to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Source NHS GMS was added to SMARCA4. Mode of inheritance for gene SMARCA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes predisposition to small cell ca; Ovary with hypercalcemia for gene: SMARCA4 Publications for gene SMARCA4 were changed from 20137775 to 24658002
Source Expert List was added to SMARCA4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SMARCA4 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
SMARCA4 was created by Reviewer_03