Ocular and oculo-cutaneous albinism
Gene: MITFEnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels
4 reviews
Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)
Phenotypes
Tietz albinism-deafness syndrome; Waardenburg syndrome, type 2A; Waardenburg syndrome/ocular albinism, digenic
Ellen Thomas (Genomics England Curator)
Comment on list classification: Limited evidence in WS-OA, plus only evidence for digenic inheritance. Tietz syndrome doesn't include ocular albinism.Created: 12 Sep 2016, 6:43 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: It is a confirmed DD gene for Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A) and Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA), however there is the issue of digenic inheritance with variants in the TYS gene. PMID: 23787126 - suggests some variants may be neutral (including one reported in OMIM with an association).Created: 7 Sep 2016, 3:52 p.m.
Penny Clouston (Oxford)
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Waardenburg syndrome/ocular albinism, digenic,103470
- Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A)
- Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
- OMIM
- 156845
- Clinvar variants
- Variants in MITF
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: Panel internally revised after expert review, and approved to version 1.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MITF were set to Waardenburg syndrome/ocular albinism, digenic,103470;Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A);Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Olivia Niblock (Genomics England Curator)MITF was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)MITF was added to Ocular and oculo-cutaneous albinismpanel. Sources: Radboud University Medical Center, Nijmegen