Structural eye disease
Gene: MITF
Dominant variants are associated with Waardenburg syndrome, however George et al reported two cases with compound het changes and a new syndrome including microphthalmia (COMMAD syndrome): one case with compound heterozygous changes for missense/in-frame deletion segregating in parents - inframe deletion was previously shown to lack DNA binding or regulate target-gene promotors in mice (Grill paper), another unrelated case with missense and splice site variant segregating in parents plus convincing evidence in mouse and cell models that these variants are pathogenic. Steingrimsson published first paper on MITF variants causing microphthalmia in miceCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB George: two families with compound heterozygous changes and microphthalmia, ample evidence from animal models (hence name)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMMAD syndrome, 617306
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
COMMAD Syndrome, Waardenburg syndrome, type 2a, WS2A
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB George: two families with compound heterozygous changes and microphthalmia, ample evidence from animal models (hence name)Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMMAD syndrome, 617306
Publications
Publications for gene MITF were changed from 27889061 to 7874168; 27889061; 23787126
Source London North GLH was added to MITF. Added phenotypes Waardenburg syndrome, type 2a, WS2A, 193510 for gene: MITF
gene: MITF was added gene: MITF was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MITF were set to 27889061 Phenotypes for gene: MITF were set to COMMAD syndrome, 617306