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Intellectual disability v8.189 ERCC4 Sarah Leigh Added comment: Comment on publications: PMID: 39769235 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.189 ERCC4 Sarah Leigh Publications for gene: ERCC4 were set to 39769235
Intellectual disability v8.178 ERCC4 Sarah Leigh reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: 39769235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.178 ERCC4 Sarah Leigh Publications for gene: ERCC4 were set to
Intellectual disability v8.178 ERCC4 Sarah Leigh Phenotypes for gene: ERCC4 were changed from Xeroderma pigmentosum, group F, 278760; XFE progeroid syndrome, 610965; Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 to Xeroderma pigmentosum, group F 278760; XFE progeroid syndrome, OMIM: 610965
Intellectual disability v3.421 ERCC4 Arina Puzriakova Source Expert Review Red was added to ERCC4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.251 ERCC4 Arina Puzriakova commented on gene: ERCC4
Intellectual disability v3.0 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: None
Intellectual disability ERCC4 BRIDGE consortium edited their review of ERCC4
Intellectual disability ERCC4 BRIDGE consortium edited their review of ERCC4
Intellectual disability ERCC4 Louise Daugherty classified ERCC4 as amber
Intellectual disability ERCC4 Louise Daugherty classified ERCC4 as amber
Intellectual disability ERCC4 Louise Daugherty commented on ERCC4
Intellectual disability ERCC4 BRIDGE consortium reviewed ERCC4