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| Adrenal insufficiency v0.42 | WNT4 | Chirag Patel Marked gene: WNT4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.42 | WNT4 | Chirag Patel Gene: wnt4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adrenal insufficiency v0.42 | WNT4 |
Chirag Patel gene: WNT4 was added gene: WNT4 was added to Adrenal insufficiency. Sources: Expert List Mode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT4 were set to 18179883 Phenotypes for gene: WNT4 were set to SERKAL syndrome, OMIM #611812 Review for gene: WNT4 was set to RED Added comment: Biallelic variants in WNT4 have been linked to SERKAL syndrome, an autosomal recessive disorder characterized by 46,XX sex reversal and dysgenesis of the kidneys, adrenals, and lungs. SERKAL syndrome with adrenal anomalies has only been described in a single consanguineous kindred with four affected fetuses (A114V variant). Sources: Expert List |
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