Inherited predisposition to GIST
Gene: KITComment on phenotypes: This gene is also associated with Piebaldism (MIM# 172800); Mastocytosis, cutaneous (MIM# 154800); Mastocytosis, systemic, somatic (MIM# 154800); Germ cell tumors, somatic (MIM# 273300); Leukemia, acute myeloid, somatic (MIM# 601626)Created: 8 Mar 2021, 11:52 a.m. | Last Modified: 8 Mar 2021, 11:52 a.m.
Panel Version: 1.5
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 1:06 p.m. | Last Modified: 31 Jul 2019, 1:06 p.m.
Panel Version: 0.21
Variants in this GENE are reported as part of current diagnostic practice
Gain of function.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gastro-Intestinal Stromal Tumor
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: KIT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: kit has been classified as Green List (High Evidence).
gene: KIT was added gene: KIT was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: KIT was set to