Hearing lossGene: KITLG
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.
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.
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
#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)]
Phenotypes for gene: KITLG were changed from to Deafness, autosomal dominant 69, unilateral or asymmetric 616697
Publications for gene: KITLG were set to
Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: KITLG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KITLG was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert