Activity
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| Renal tubulopathies v5.8 | ERCC1 | Arina Puzriakova Classified gene: ERCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v5.8 | ERCC1 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - renal dysfunction was reported in all affected individuals with ERCC1-hepatorenal syndrome. Renal involvement is variable, including tubular dysfunction (5/7) and nephrocalcinosis (2/7). The two oldest individuals progressed to end-stage renal disease in adolescence. |
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| Renal tubulopathies v5.8 | ERCC1 | Arina Puzriakova Gene: ercc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v5.7 | ERCC1 |
Arina Puzriakova gene: ERCC1 was added gene: ERCC1 was added to Renal tubulopathies. Sources: Literature Q3_25_promote_green tags were added to gene: ERCC1. Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 40684071 Phenotypes for gene: ERCC1 were set to hepatorenal syndrome, MONDO:0001382 Review for gene: ERCC1 was set to GREEN Added comment: ERCC1 is associated with a spectrum of DNA repair disorders from severe neonatal conditions (Cerebrooculofacioskeletal syndrome 4, OMIM:610758) to multisystem disorders (Xeroderma Pigmentosum) that can extend into adolescence and early adulthood. A recent study (PMID: 40684071) identified seven individuals from five families carrying biallelic ERCC1 variants, who exhibited a distinct clinical phenotype including growth restriction, photosensitivity, and kidney and liver dysfunction. Hepatocellular carcinoma developed in four children, resulting in death in two. Older individuals exhibited additional features, including ataxia, basal cell carcinomas, pancreatic insufficiency, ovarian failure, hypothyroidism, and restrictive lung disease. Most reported individuals have c.466 C > T (p.Arg156Trp) on at least one allele, often with a LOF variant in trans. Functional assays using patient-derived fibroblasts demonstrated significant destabilisation of the ERCC1-XPF complex and defects in NER and ICL repair. Sources: Literature |
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