| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.84 | ALMS1 | Zornitza Stark Marked gene: ALMS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.84 | ALMS1 | Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.84 | ALMS1 | Zornitza Stark Classified gene: ALMS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.84 | ALMS1 | Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.83 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 25296579 Phenotypes for gene: ALMS1 were set to Alstrom syndrome, MIM# 203800 Review for gene: ALMS1 was set to GREEN Added comment: Autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age. Chronic active hepatitis, hepatomegaly, steatosis, and cirrhosis all reported. Sources: Expert list |
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