1. Panels
  2. Inherited predisposition to GIST
  3. KIT
STRs in panel
Prev Next
Regions in panel
Prev Next

Inherited predisposition to GIST

Gene: KIT

Green List (high evidence)
KIT (KIT proto-oncogene receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 8 Mar 2021, 11:52 a.m.
Last Modified: 8 Mar 2021, 11:52 a.m.
Panel version: 1.5

Ivone Leong (Genomics England Curator)

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
Created: 31 Jul 2019, 1:06 p.m.
Last Modified: 31 Jul 2019, 1:06 p.m.
Panel version: 0.21

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jan 2019, 10:28 a.m.

Panel version: 0.3

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 30 Jan 2019, 10:28 a.m.

Panel version: 0.3

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

Created: 5 Jul 2017, 12:19 p.m.

Panel version: Imported from Adult solid tumours pertinent cancer susceptibility panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Gastrointestinal stromal tumor, familial, OMIM:606764
  • Gastrointestinal stromal tumor, MONDO:0011719
OMIM
164920
Clinvar variants
Variants in KIT
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719

30 Jan 2019, Gel status: 3

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: KIT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kit has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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