| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v0.1260 | UQCRQ | Zornitza Stark Marked gene: UQCRQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1260 | UQCRQ | Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCRQ | Chirag Patel Classified gene: UQCRQ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCRQ | Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - one family and no reports >10 years. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCRQ | Chirag Patel Gene: uqcrq has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRQ | Chirag Patel Classified gene: UQCRQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRQ | Chirag Patel Gene: uqcrq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.375 | UQCRQ |
Chirag Patel Source Genetic Health Queensland was removed from UQCRQ. Source Expert list was added to UQCRQ. Mode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159 Publications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.374 | UQCRQ | Chirag Patel reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | UQCRQ |
Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRQ was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||