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Hearing loss

Gene: MITF

Green List (high evidence)

MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Jun Shen (Harvard Medical School)

Green List (high evidence)

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}

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:51 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 2A, 193510
  • Waardenburg syndrome/ocular albinism, digenic, 103470
  • Tietz albinism-deafness syndrome, 103500
  • {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
Tags
watchlist
OMIM
156845
Clinvar variants
Variants in MITF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Aug 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

1 Jun 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

17 Feb 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).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for MITF was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MITF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MITF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MITF was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert