Intellectual disability update Jan 2018
Gene: MITF

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

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with COMMAD syndrome (MIM:617306), Tietz albinism-deafness syndrome (103500), Waardenburg syndrome, type 2A (MIM:193510), Waardenburg syndrome/ocular albinism, digenic (MIM:103470) and {Melanoma, cutaneous malignant, susceptibility to, 8} (MIM:614456) in OMIM and Gene2Phenotype but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.
Created: 28 Feb 2018, 11:06 a.m.

Created: 28 Feb 2018, 10:09 a.m.

Panel version: 0.155

Details

Sources

Expert Review Red
BRIDGE study SPEED NEURO Tier1 Gene

OMIM

156845

Clinvar variants

Variants in MITF

Penetrance

None

Panels with this gene

History Filter Activity

28 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MITF was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber