| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v0.1545 | VPS33B | Zornitza Stark Marked gene: VPS33B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1545 | VPS33B | Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.368 | VPS33B |
Chirag Patel Source Genetic Health Queensland was removed from VPS33B. Source Expert list was added to VPS33B. Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085 Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.367 | VPS33B | Chirag Patel reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS33B was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||