Monogenic hearing loss
Gene: MITF
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
There is evidence to suggest there is reduced penetrance for this gene-disease association (PMID: 26100139). Due to feedback from Rowenna Roberts at GOSH, this gene has therefore been denoted as having incomplete pentrance.Created: 17 Mar 2020, 11:19 a.m. | Last Modified: 17 Mar 2020, 11:19 a.m.
Panel Version: 2.8
Comment on mode of inheritance: Confirmed with Maria Bitner-Glindzicz (UCL) that the mode of inheritance should be changed from monoallelic to both monoallelic and biallelic, to cover COMMAD syndrome, after suggestion from another reviewer.Created: 14 Aug 2018, 7:51 a.m.
Comment on publications: PMID: 27889061 - report of two patients with biallelic variants in this gene with COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (COMMAD syndrome) from two families. This is a probable DD gene for COMMAD syndrome.Created: 1 Jun 2018, 2:59 p.m.
Comment on list classification: Confirmed DD gene.Created: 17 Feb 2016, 5:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#103470:Waardenburg syndrome/ocular albinism, digenic[Reduced visual acuity; Photophobia; Nystagmus; Translucent irides; Strabismus; Hypermetropia; Albinotic fundus; Foveal hypoplasia; Optic nerve dysplasia; Hypomelanosis; Lentigines; Deafness; Vestibular hypofunction; Macromelanosomes]; #103500:Tietz albinism-deafness syndrome[Hearing loss, sensorineural, bilateral profound congenital; White eyelashesWhite eyebrowsBlue eyesNo heterochromia iridisHypopigmented fundi; Fair skin; White eyelashesWhite eyebrowsWhite-blonde hair]; #193510:Waardenburg syndrome, type 2A[Deafness, congenital sensorineural; Dystopia canthorum absentHeterochromia iridisHypoplastic iris stomaSynophrys; Wide nasal bridgeHypoplastic alae nasi; Congenital partial albinism (leukoderma) on face, trunk, or limbs; White forelockWhite eyelashes and eyebrowsPremature graying of hair]; #614456:{Melanoma, cutaneous malignant, susceptibility to, 8}
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:51 p.m.
Good evidence for causing Waardenburg syndrome and the diagnosis could be missed so put on green list.Created: 19 Oct 2015, 5:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MITF were set to 10578055; 10587587; 10760582; 10851256; 10942418; 11331755; 11929831; 11929848; 11930005; 12032083; 12086670; 12093801; 12235125; 12668617; 13985019; 15254223; 15623583; 15716956; 16001072; 16140982; 16998588; 17182868; 18316599; 18510545; 19188590; 22012259; 22080950; 26168401; 666627; 7874158; 7874167; 7874168; 8069297; 8578601; 8589691; 8659547; 8782819; 9158138; 9499424; 9500554; 9546825; 9677380; 9856573; 27889061
Source Expert was removed from MITF. Penetrance for gene MITF was set from to Complete
Tag watchlist was removed from gene: MITF.
Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MITF were set to 10578055; 10587587; 10760582; 10851256; 10942418; 11331755; 11929831; 11929848; 11930005; 12032083; 12086670; 12093801; 12235125; 12668617; 13985019; 15254223; 15623583; 15716956; 16001072; 16140982; 16998588; 17182868; 18316599; 18510545; 19188590; 22012259; 22080950; 26168401; 666627; 7874158; 7874167; 7874168; 8069297; 8578601; 8589691; 8659547; 8782819; 9158138; 9499424; 9500554; 9546825; 9677380; 9856573; 27889061
Phenotypes for MITF were set to Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
Publications for MITF were set to PMID:10578055; 10587587; 10760582; 10851256; 10942418; 11331755; 11929831; 11929848; 11930005; 12032083; 12086670; 12093801; 12235125; 12668617; 13985019; 15254223; 15623583; 15716956; 16001072; 16140982; 16998588; 17182868; 18316599; 18510545; 19188590; 22012259; 22080950; 26168401; 666627; 7874158; 7874167; 7874168; 8069297; 8578601; 8589691; 8659547; 8782819; 9158138; 9499424; 9500554; 9546825; 9677380; 9856573
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MITF was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
MITF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
MITF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
MITF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert