Activity
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10 actions
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| Arthrogryposis v9.11 | ERCC1 | Eleanor Williams Added comment: Comment on phenotypes: Phenotype data access in OMIM on 2nd October 2025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.11 | ERCC1 | Eleanor Williams Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, OMIM:610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.10 | ERCC1 | Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ERCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.10 | ERCC1 | Arina Puzriakova Classified gene: ERCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.10 | ERCC1 |
Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber but this gene could be promoted to Green at the next GMS panel update. Two unrelated individuals with biallelic ERCC1 variants have been reported who had cerebrooculofacioskeletal syndrome which includes contractures. Both died in early childhood. Cells from both individuals showed sensitivity to UV-induced DNA damage (PMID: 17273966; 23623389). Rated Green on other GMS panels for this phenotype (Intellectual disability, Fetal anomalies) based on the same evidence. Number of cases is likely to be small due to severity of the condition. |
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| Arthrogryposis v9.10 | ERCC1 | Arina Puzriakova Gene: ercc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v9.8 | ERCC1 | Arina Puzriakova Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, 610758 to Cerebrooculofacioskeletal syndrome 4, OMIM:610758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.82 | ERCC1 | Rebecca Foulger Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4 to Cerebrooculofacioskeletal syndrome 4, 610758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.64 | ERCC1 | Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.62 | ERCC1 |
Rebecca Foulger gene: ERCC1 was added gene: ERCC1 was added to Arthrogryposis. Sources: Literature,Expert Review Red Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC1 were set to 17273966; 23623389 Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4 |
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