Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

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 16 panels

4 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Promoted to green after confirmation of the association with the reviewer.
Created: 2 Mar 2016, 11:09 a.m.
Comment on list classification: Discussed with reviewer - the association of piebaldism and deafness is very well established.
Created: 2 Mar 2016, 11:08 a.m.
Comment on mode of inheritance: From the 3 pulications reporting variants in patients.
Created: 2 Mar 2016, 11:05 a.m.
Seems to be a clear association between mutations in this gene and piebaldism. PMID: 9450866 - reports a novel missense substitution in KIT (heterozygous) in a South African girl with severe piebaldism and profound congenital sensorineural deafness. PMID: 15099345 - a report of a 21-year old woman with congenital sensorineural hearing loss (without pigmentary abnormalities) who had the same KIT mutation as her mother with piebaldism, as well as two mutations in the SLC26A4 gene. Her hearing loss was attributed to mutations in the SLC26A4 gene, and non-penetrance of piebaldism. PMID: 23399981 - A report of a proband with no pigmentation of his skin nor hair and blue irides, and pro- found sensorineural hearing loss. A homozygous deletion of exons 20 and 21 in the proband was found, and parents were heterozygous for these deletions (homozygosity for piebaldism is clinically more severe than heterozygous state). Also describe other published studies of c-kit mutations in mice, which have defects including albinism and deafness.
Created: 2 Mar 2016, 11:03 a.m.

Jun Shen (Harvard Medical School)

Inheritance:Autosomal dominant;Isolated cases;Somatic mutation
Created: 9 Feb 2016, 10:07 a.m.
Inheritance:Autosomal dominant;Somatic mutation;Isolated cases
Created: 7 Feb 2016, 4:53 p.m.
Inheritance:Autosomal dominant;Isolated cases;Somatic mutation
Created: 7 Feb 2016, 3:43 p.m.
Inheritance:Autosomal dominant,Isolated cases,Somatic mutation
Created: 7 Feb 2016, 9:26 a.m.
Inheritance:Somatic mutation
Created: 7 Feb 2016, 8:58 a.m.

Mode of inheritance
Other

Phenotypes
#154800:Mast cell disease[Hyperpigmented macules or papules showing erythema or edema on trauma; Urticaria pigmentosa; Cutaneous mastocytosis; Bullous mastocytosis; Telangiectasia macularis eruptiva perstans; Systemic mastocytosis may affect bone, GI tract, lymphatics, spleen, and liver]; #172800:Piebaldism[Piebaldism; White forelock; Absent pigmentation of medial forehead, eyebrows and chin; Absent pigmentation of ventral chest, abdomen and limbs; Hyperpigmented borders of unpigmented areas; Heterochromia iridis; Frequent epitheliomas; Occasional deafness; Rare Hirschsprung disease]; #273300:Germ cell tumors[Painless testicular mass; Male germ cell tumors (GCT), 2 subtypes -SeminomaNonseminoma (embryonal carcinoma, teratoma, choriocarcinoma, endodermal sinus tumor); Isochromosome 12p (i(12p))Elevated hCG (choriocarcinoma)Elevated AFP (endodermal sinus tumor)Elevated hCG or AFP or both (embryonal carcinoma)Azoospermia/oligospermia (present at diagnosis)]; #601626:Leukemia, acute myeloid[Familial acute myelogenous leukemia (AML); Evidence of anticipation; Mean onset age 57 years, 32 years and 13 years in successive generations]; #606764:Gastrointestinal stromal tumor, familial[Gastrointestinal stromal tumorsPathology resembles neurofibromasHyperplasia of the myenteric plexusIntestinal obstructionConstipation (reported in 1 family with a PDFGRA mutation)Dysphagia; Large hands (in patients with PDGFRA mutations); Hyperpigmentation (in patients with KIT mutations)Urticaria pigmentosa or cutaneous mastocytosis (in patients with KIT mutations)]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Not sure of source of evidence for hearing loss?
Created: 1 Feb 2016, 4:59 p.m.

History Filter Activity

2 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KIT were set to Piebaldism and congenital sensorineural hearing loss

2 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KIT were set to PMID: 23399981; 15099345; 9450866; 10362788; 10589513; 10620616; 10655061; 10716931; 11073817; 11074500; 11174389; 11287975; 11380399; 11493470; 11505412; 11870247; 12140361; 12420135; 12754375; 12773427; 1279971; 1370874; 1376329; 1377810; 1384325; 15824741; 16061643; 16724059; 1688471; 1693331; 1711207; 1717985; 1720553; 17420286; 18239612; 1826051; 19643989; 20927104; 2448137; 2457811; 2458842; 3049687; 3360448; 7479840; 7513208; 7530333; 7691885; 8579844; 8589724; 8875890; 9029028; 9438854; 9450866; 9657776; 9662380; 9697690; 9699740; 9724328; 9778516; 9827716; 9916918; 9990072

2 Mar 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KIT was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

23 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KIT were set to Piebaldism

23 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KIT were set to PMID:10362788; 10589513; 10620616; 10655061; 10716931; 11073817; 11074500; 11174389; 11287975; 11380399; 11493470; 11505412; 11870247; 12140361; 12420135; 12754375; 12773427; 1279971; 1370874; 1376329; 1377810; 1384325; 15824741; 16061643; 16724059; 1688471; 1693331; 1711207; 1717985; 1720553; 17420286; 18239612; 1826051; 19643989; 20927104; 2448137; 2457811; 2458842; 3049687; 3360448; 7479840; 7513208; 7530333; 7691885; 8579844; 8589724; 8875890; 9029028; 9438854; 9450866; 9657776; 9662380; 9697690; 9699740; 9724328; 9778516; 9827716; 9916918; 9990072

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIT was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIT was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert