Childhood solid tumours
Gene: SMAD4
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
Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis
Source NHS GMS was added to SMAD4. Mode of inheritance for gene SMAD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Juvenile Polyposis; Hereditary Hemorrhagic Telangiectasia for gene: SMAD4 Publications for gene SMAD4 were changed from to 15754356
Source Expert list was added to SMAD4. Source Expert Review Green was added to SMAD4. Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Polyposis, juvenile intestinal, 174900 for gene: SMAD4 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SMAD4 was added gene: SMAD4 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SMAD4 was set to