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Hearing loss

Gene: KITLG

Amber List (moderate evidence)

KITLG (KIT ligand)
EnsemblGeneIds (GRCh38): ENSG00000049130
EnsemblGeneIds (GRCh37): ENSG00000049130
OMIM: 184745, Gene2Phenotype
KITLG is in 5 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rate from red to amber as there are 2 cases
Created: 17 Feb 2019, 11:01 p.m.
After discussion with the NHS GMS hearing specialist group on 2019-02-13 it was decided to rate this gene amber, as there are 2 reported cases of variants in this gene in families with hearing loss.
Created: 17 Feb 2019, 11 p.m.

Emma Ashton (Great Ormond Street Hospital)

I don't know

Not included in our current panel but had been requested to go into next version of our panel (Clinician from Birmingham clinical genetics). Zaco Seco et al (2015) PMID 26522471 report as causing both asymmetric and unilateral hearing loss and WS type 2, segregate in large and small family respectively (AD with reduced penetrance). Owago et al (2017) PMID 28504826 report pigmented macules in WS2 in 1 Filipino patient homozygous for missense variant, unaffected mother and half sib heterozygous. State that patient fulfils clinical criteria for WS but cannot rule out diagnosis of FPHH with separate cause of hearing loss. Progressive hyper and hypo-pigmentation is the main reported phenotype associated with this gene
Created: 17 Feb 2019, 4:35 p.m.

Publications

Ellen McDonagh (Genomics England Curator)

PubMed: 26522471 - association with mutations in this gene and autosomal dominant nonsyndromic congenital sensorineural unilateral or asymmetric hearing loss in a family, but not with complete penetrance as also present in unaffected carriers. PMID: 26522471 - heterozygous variant identifed in Spanish father and son with nonsyndromic congenital asymmetric sensorineural hearing loss.
Created: 23 Feb 2016, 1:21 p.m.
PMID: 26522471 - Study revealing a heterozygous truncating mutation in a family with congenital and stable non-syndromic unilateral and asymmetric hearing loss. Screening of a panel of probands identified an additional mutation. A heterozygous mutation was detected in a family with Waardenburg syndrome. Fuctional studies suggest a loss-of-function effect for congenital and stable non-syndromic unilateral and asymmetric hearing loss, and gain-of-function effect for Waardenburg syndrome.
Created: 23 Feb 2016, 1:02 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#145250:Hyperpigmentation with or without hypopigmentation[Familial progressive hyperpigmentation and hypopigmentationHyperpigmented skin patches (face, neck, trunk, limbs, lip, oral mucosa, palms, and soles)Hypopigmented skin patchesCafe-au-lait spotsLentiginosis, generalized (in some patients)Vitiligo (rare); Hyperkeratosis with increased melanin in epidermis, especially basal cell layer and tips of rete ridges]; #611664:[Skin/hair/eye pigmentation 7, blond/brown hair][<omim version=1.0><clinicalSynopsisList>]; #616697:Deafness, congenital, unilateral or asymmetric[Hearing loss, sensorineural, congenital unilateral or bilateral asymmetricSubclinical vestibular dysfunction (in some patients)]

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert
Phenotypes
  • Deafness, autosomal dominant 69, unilateral or asymmetric 616697
OMIM
184745
Clinvar variants
Variants in KITLG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric 616697

17 Feb 2019, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: KITLG were set to

17 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

17 Feb 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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