| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.38 | MARS | Zornitza Stark Marked gene: MARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.38 | MARS | Zornitza Stark Gene: mars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.38 | MARS | Zornitza Stark Classified gene: MARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.38 | MARS | Zornitza Stark Gene: mars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.37 | MARS |
Zornitza Stark gene: MARS was added gene: MARS was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 24103465; 25913036 Phenotypes for gene: MARS were set to Interstitial lung and liver disease, MIM#615486 Review for gene: MARS was set to GREEN Added comment: Autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis. Sources: Expert list |
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