| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v2.59 | NDUFA5 | Zornitza Stark edited their review of gene: NDUFA5: Changed phenotypes: Mitochondrial disease, MONDO:0044970, NDUFA5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.59 | NDUFA5 | Zornitza Stark Marked gene: NDUFA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.59 | NDUFA5 | Zornitza Stark Gene: ndufa5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.59 | NDUFA5 | Zornitza Stark reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial metabolism disorder MONDO:0004069, NDUFA5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.41 | Sarah Milton Copied gene NDUFA5 from panel Mitochondrial disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.41 | NDUFA5 |
Sarah Milton gene: NDUFA5 was added gene: NDUFA5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA5 were set to 41916321 Phenotypes for gene: NDUFA5 were set to Mitochondrial disease, MONDO:0044970, NDUFA5-related Penetrance for gene: NDUFA5 were set to Complete |
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| Intellectual disability syndromic and non-syndromic v1.762 | Zornitza Stark removed gene:NDUFA5 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.761 | Zornitza Stark Copied gene NDUFA5 from panel Mitochondrial disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.761 | NDUFA5 |
Zornitza Stark gene: NDUFA5 was added gene: NDUFA5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA5 were set to 41916321 Phenotypes for gene: NDUFA5 were set to Complex I deficiency Penetrance for gene: NDUFA5 were set to Complete |
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