Structural eye disease

Gene: MITF

Green List (high evidence)

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 mice

Created: 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

• 27889061
• 23787126
• 7874168

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Phenotypes
COMMAD Syndrome, Waardenburg syndrome, type 2a, WS2A

Green List (high evidence)

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

• 27889061