| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chromosome Breakage Disorders v2.0 | RECQL4 | Gene migrated from ENSG00000160957 to ENSG00000160957 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.19 | RECQL4 | Zornitza Stark changed review comment from: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.; to: PMID 35025765: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.19 | RECQL4 | Zornitza Stark Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600 to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600; RECON progeroid syndrome, MIM# 620370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.18 | RECQL4 | Zornitza Stark Publications for gene: RECQL4 were set to 10319867; 12952869; 15964893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.17 | RECQL4 | Zornitza Stark edited their review of gene: RECQL4: Added comment: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.; Changed publications: 10319867, 12952869, 15964893, 35025765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.17 | RECQL4 | Zornitza Stark edited their review of gene: RECQL4: Changed phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600, RECON progeroid syndrome, MIM# 620370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.148 | RECQL4 | Zornitza Stark Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.148 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.148 | RECQL4 | Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.147 | RECQL4 | Zornitza Stark Publications for gene: RECQL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.146 | RECQL4 | Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.145 | RECQL4 | Zornitza Stark reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10319867, 12952869, 15964893; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.2 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RECQL4 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||