| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Metal Metabolism Disorders v1.1 | RNF43 | Zornitza Stark Marked gene: RNF43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v1.1 | RNF43 | Zornitza Stark Gene: rnf43 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v1.1 | RNF43 |
Zornitza Stark gene: RNF43 was added gene: RNF43 was added to Metal Metabolism Disorders. Sources: Literature founder tags were added to gene: RNF43. Mode of inheritance for gene: RNF43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF43 were set to 41024252 Phenotypes for gene: RNF43 were set to Hereditary haemochromatosis, MONDO:0006507, RNF43-related Review for gene: RNF43 was set to RED Added comment: PMID 41024252 reports 15 individuals from 13 families with a homozygous LoF RNF43 variant c.1403C>G (p.Ser468*) presenting as hereditary haemochromatosis, adult‑onset iron overload. Founder variant. No other supportive data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||