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Arthrogryposis v0.125 | ERCC5 | Zornitza Stark Classified gene: ERCC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.125 | ERCC5 | Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.124 | ERCC5 | Zornitza Stark edited their review of gene: ERCC5: Changed publications: 24700531, 32557569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.124 | ERCC5 |
Zornitza Stark changed review comment from: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis. Sources: Expert list; 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). Sources: Expert list |
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Arthrogryposis v0.124 | ERCC5 | Zornitza Stark edited their review of gene: ERCC5: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.124 | ERCC5 | Zornitza Stark Marked gene: ERCC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.124 | ERCC5 | Zornitza Stark Gene: ercc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.124 | ERCC5 | Zornitza Stark Classified gene: ERCC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.124 | ERCC5 | Zornitza Stark Gene: ercc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.123 | ERCC5 |
Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 24700531 Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 Review for gene: ERCC5 was set to AMBER Added comment: Single family reported with 5 affected fetuses and severe COFS including arthrogryposis. Sources: Expert list |