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Intellectual disability syndromic and non-syndromic v0.2473 | MRPL3 | Zornitza Stark reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.1541 | MRPL3 | Zornitza Stark Marked gene: MRPL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.1541 | MRPL3 | Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.443 | MRPL3 | Chirag Patel Classified gene: MRPL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.443 | MRPL3 | Chirag Patel Gene: mrpl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.442 | MRPL3 |
Chirag Patel Source Genetic Health Queensland was removed from MRPL3. Source Expert list was added to MRPL3. Mode of inheritance for gene MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582 Publications for gene MRPL3 were changed from PubMed: 27815843; 21786366 to PubMed: 27815843; 21786366 |
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Intellectual disability syndromic and non-syndromic v0.441 | MRPL3 | Chirag Patel reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.0 | MRPL3 |
Zornitza Stark gene: MRPL3 was added gene: MRPL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPL3 was set to Unknown |