| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v1.194 | NDUFA4 | Zornitza Stark Marked gene: NDUFA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.194 | NDUFA4 | Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.194 | NDUFA4 | Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.194 | NDUFA4 | Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.193 | NDUFA4 |
Sarah Milton gene: NDUFA4 was added gene: NDUFA4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA4 were set to PMID: 39967265 Phenotypes for gene: NDUFA4 were set to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Review for gene: NDUFA4 was set to GREEN Added comment: HGNC symbol now COXFA4 Around 10 patients reported in literature thus far with most having developmental delay. Association with hypertrophic cardiomyopathy reported in 3 siblings from a family in PMID: 39967265 Sources: Literature |
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