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Deafness_IsolatedAndComplex

Gene: KITLG

Green List (high evidence)

KITLG (KIT ligand)
EnsemblGeneIds (GRCh38): ENSG00000049130
EnsemblGeneIds (GRCh37): ENSG00000049130
OMIM: 184745, Gene2Phenotype
KITLG is in 3 panels

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35543077:
- Six unrelated children with homozygous variants and features consistent with WS2. All six probands had sensorineural hearing loss and pigmentary abnormalities of the hair and skin, and five also had pigmentary changes of the iris. Heterozygous parents were unaffected.

PMID: 28504826:
- A 16-year-old boy with Waardenburg syndrome type 2F manifested as sensorineural deafness, brilliant blue irises, and hypopigmentation of the lower extremities, had homozygosity for a missense variant that segregated with disease in the family.

PMID: 19375057:
- Gain of function missense variant identified in one family with multiple affected individuals with familial progressive hyperpigmentation. The variant segregated with disease perfectly.

PMID: 21368769:
- Three different mutations in four families with familial progressive hyper- and hypopigmentation.

AD Deafness remains amber (as per previous review). Two families with reduced penetrance reported.

Genotype phenotype correlation:
- Gain-of-function variants are associated with familial progressive hyperpigmentation and hyper- and hypopigmentation
- Postulated that biallelic loss-of-function variants cause generalized hypomelanosis while variants with residual protein function lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss mostly reminiscent of WS2 or piebaldism.
Created: 14 Jul 2022, 2:07 a.m. | Last Modified: 14 Jul 2022, 2:07 a.m.
Panel Version: 1.137

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
deafness; heterochromia iridis; hypopigmentation of the skin; hyperpigmentation of the skin; Waardenburg syndrome

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, limited functional data.
Sources: Expert list
Created: 31 Dec 2019, 1:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Waardenburg syndrome, MONDO:0018094, KITLG-related
  • Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
OMIM
184745
Clinvar variants
Variants in KITLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 to Waardenburg syndrome, MONDO:0018094, KITLG-related; Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697

14 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kitlg has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kitlg has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KITLG was added gene: KITLG was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 Review for gene: KITLG was set to AMBER