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| Intellectual disability syndromic and non-syndromic v0.1539 | TUFM | Zornitza Stark Marked gene: TUFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1539 | TUFM | Zornitza Stark Gene: tufm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.517 | TUFM | Chirag Patel Classified gene: TUFM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.517 | TUFM | Chirag Patel Gene: tufm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.516 | TUFM |
Chirag Patel Source Genetic Health Queensland was removed from TUFM. Source Expert list was added to TUFM. Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678 Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893 |
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| Intellectual disability syndromic and non-syndromic v0.515 | TUFM | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.515 | TUFM |
Chirag Patel edited their review of gene: TUFM: Added comment: Developmental regression seen as part of mitochondrial disorder - 3 families 1 patient with rapidly progressive encephalopathy and homozygous missense mutation in the TUFM gene. No functional studies. 2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.; Changed rating: AMBER |
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| Intellectual disability syndromic and non-syndromic v0.515 | TUFM | Chirag Patel reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | TUFM |
Zornitza Stark gene: TUFM was added gene: TUFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUFM was set to Unknown |
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