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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
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