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Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Marked gene: SOX10 as ready
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Classified gene: SOX10 as Green List (high evidence)
Hereditary Pigmentary Disorders v0.75 SOX10 Bryony Thompson Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Pigmentary Disorders v0.74 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Pigmentary Disorders. Sources: Expert list
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX10 were set to 9462749; 18348274; 27863645; 24735604; 27240497; 24311220
Phenotypes for gene: SOX10 were set to Waardenburg syndrome type 4C MONDO:0013202
Review for gene: SOX10 was set to GREEN
gene: SOX10 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