Genomics England

Genes and Entities

Inherited predisposition to GIST (Version: )

Relevant disorders: R363, GT971, TP129

Signed off date: 12 Aug 2026

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

See this panel in PanelApp

6 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	KIT	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDGFRA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SDHA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SDHB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SDHC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SDHD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A