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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