Fetal anomalies
Gene: MITF
Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally relevant phenotype but insufficient evidence for Green rating.Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 12 Aug 2019, 12:02 p.m.
Panel Version: 0.337
Comment on mode of inheritance: Changed MOI from 'both biallelic and monoallelic' to 'biallelic' as COMMAD phenotype has recessive inheritance, and COMMAD phenotype would present prenatally (see comment from Deirdre Cilliers).Created: 11 Feb 2019, 4:03 p.m.
In 2 unrelated children with coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD; 617306), whose parents exihibited features of WS2A, George et al. (2016, PMID:27889061) identified compound heterozygosity for variants in the MITF gene.Created: 11 Feb 2019, 4:01 p.m.
Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [MITF should be on the Fetal anomalies panel]. COMMAD would present prenatally as microphalmia and congenital cataracts would be seen on ultrasound scan as may be the macrocephaly and frontal bossing. The parents would likely exhibit the Tietz albinism deafness/Waardenburg phenotypes so would be able to interpret variants for this condition. However, some fetusses may incidentally be identified to have Tietz albinism deafness/Waardenburg phenotypes, but this may also be informative to parents.Created: 11 Feb 2019, 3:55 p.m.
'watchlist' tag added to highlight different DD-G2P ratings for this gene.Created: 8 Nov 2018, 8:57 p.m.
In the original PAGE file: rated as Confirmed for WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM, TIETZ SYNDROME and WAARDENBURG SYNDROME TYPE 2A, and rated as Probable for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. In the original PAGE file, MOP listed as LOF for WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM, WAARDENBURG SYNDROME TYPE 2A and Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, and listed as Uncertain for TIETZ SYNDROME.Created: 8 Nov 2018, 4:45 p.m.
Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MITF were set to
Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306 to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470
Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306
Tag watchlist tag was added to gene: MITF.
Added phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness for gene: MITF
Added phenotypes WAARDENBURG SYNDROME TYPE 2A for gene: MITF
Added phenotypes TIETZ SYNDROME for gene: MITF
gene: MITF was added gene: MITF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM