Ocular and oculo-cutaneous albinism
Gene: MITF
Phenotypes
Tietz albinism-deafness syndrome; Waardenburg syndrome, type 2A; Waardenburg syndrome/ocular albinism, digenic
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.
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.
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
13.09.2016: Panel internally revised after expert review, and approved to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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)
This gene has been classified as Amber List (Moderate Evidence).
MITF was created by oniblock
MITF was added to Ocular and oculo-cutaneous albinismpanel. Sources: Radboud University Medical Center, Nijmegen