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Arthrogryposis v3.150 | ERCC5 | Sarah Leigh Tag for-review was removed from gene: ERCC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.150 | ERCC5 | Sarah Leigh commented on gene: ERCC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.149 | ERCC5 |
Sarah Leigh Source Expert Review Green was added to ERCC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Arthrogryposis v3.55 | ERCC5 | Arina Puzriakova Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, 616570 to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.54 | ERCC5 | Arina Puzriakova Publications for gene: ERCC5 were set to 9096355; 24700531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.53 | ERCC5 | Arina Puzriakova Classified gene: ERCC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.53 | ERCC5 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient unrelated families (4) with multiple fetuses affected by COFS3, including arthrogryposis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.53 | ERCC5 | Arina Puzriakova Gene: ercc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.52 | ERCC5 | Arina Puzriakova Tag for-review tag was added to gene: ERCC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.52 | ERCC5 | Arina Puzriakova reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24700531, 32052936, 32557569; Phenotypes: Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.11 | ERCC5 | Zornitza Stark changed review comment from: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis.; to: A family reported with 5 affected fetuses and severe COFS including arthrogryposis in PMID:24700531. Further two included in a recent review of severe neonatal presentations of nucleotide excision-repair disorders (PMID:32557569). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.11 | ERCC5 | Zornitza Stark edited their review of gene: ERCC5: Changed rating: GREEN; Changed publications: 24700531, 32557569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.11 | ERCC5 | Zornitza Stark reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 24700531; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.83 | ERCC5 | Rebecca Foulger Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3 to Cerebrooculofacioskeletal syndrome 3, 616570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.64 | ERCC5 | Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v2.62 | ERCC5 |
Rebecca Foulger gene: ERCC5 was added gene: ERCC5 was added to Arthrogryposis. Sources: Literature,Expert Review Amber Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 9096355; 24700531 Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3 |