| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Growth failure v1.78 | ERCC1 | Zornitza Stark Marked gene: ERCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.78 | ERCC1 | Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.78 | ERCC1 | Zornitza Stark Classified gene: ERCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.78 | ERCC1 | Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.77 | ERCC1 |
Sarah Milton gene: ERCC1 was added gene: ERCC1 was added to Growth failure. Sources: Literature Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to PMID: 40684071 Phenotypes for gene: ERCC1 were set to Hepatorenal syndrome, MONDO:0001382, ERCC1-related Review for gene: ERCC1 was set to GREEN Added comment: ERCC1 encodes a part of a multifunctional endonuclease involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair. Additional literature published further defining phenotypic spectrum. Now more than 7 individuals from 4 families who present with a multi system disorder including progressive cholestatic hepatic dysfunction (100%) which required transplantation in some. 4 individuals developed hepatocellular carcinoma. Other features included: photosensitivity, growth restriction, renal impairment/nephrocalcinosis and mild developmental issues. LOF proposed mechanism with supportive functional studies including western blot from affected individual's fibroblasts showing reduced ERCC1 levels, reduced DNA repair following UV radiation, abnormal chromosomal breakage in response to mitomycin C. Variant types include missense, splice site, deletion and NMD predicted. Some missense variants proposed to be hypomorphic. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||