| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v0.232 | SEMA7A | Zornitza Stark Marked gene: SEMA7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.232 | SEMA7A | Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.232 | SEMA7A | Zornitza Stark Classified gene: SEMA7A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.232 | SEMA7A | Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.231 | SEMA7A |
Zornitza Stark gene: SEMA7A was added gene: SEMA7A was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: SEMA7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA7A were set to 34585848 Phenotypes for gene: SEMA7A were set to Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874 Review for gene: SEMA7A was set to AMBER Added comment: Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype. Sources: Expert list |
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