| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Pigmentary Disorders v0.72 | MITF | Bryony Thompson Marked gene: MITF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.72 | MITF | Bryony Thompson Gene: mitf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.72 | MITF | Bryony Thompson Classified gene: MITF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.72 | MITF | Bryony Thompson Gene: mitf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.71 | MITF |
Bryony Thompson gene: MITF was added gene: MITF was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565 Phenotypes for gene: MITF were set to Waardenburg syndrome type 2A MONDO:0008671 Review for gene: MITF was set to GREEN gene: MITF was marked as current diagnostic Added comment: Heterozygous loss-of-function variants in this gene cause Waardenburg syndrome, which is characterised by deafness and pigmentation anomalies of eyes, hair, and skin. Sources: Expert list |
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