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| Hereditary Pigmentary Disorders v0.77 | PAX3 | Bryony Thompson Marked gene: PAX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.77 | PAX3 | Bryony Thompson Gene: pax3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.77 | PAX3 | Bryony Thompson Classified gene: PAX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.77 | PAX3 | Bryony Thompson Gene: pax3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Pigmentary Disorders v0.76 | PAX3 |
Bryony Thompson gene: PAX3 was added gene: PAX3 was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAX3 were set to 27759048; 7897628; 28690861; 30314436; 25932447 Phenotypes for gene: PAX3 were set to Waardenburg syndrome MONDO:0018094 Review for gene: PAX3 was set to GREEN gene: PAX3 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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