| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.1282 | HK1 | Zornitza Stark Marked gene: HK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1282 | HK1 | Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1282 | HK1 | Zornitza Stark Classified gene: HK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1282 | HK1 | Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1282 | HK1 | Zornitza Stark Classified gene: HK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1282 | HK1 | Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1281 | HK1 |
Zornitza Stark gene: HK1 was added gene: HK1 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HK1 were set to 40469904; 38617198 Phenotypes for gene: HK1 were set to Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Review for gene: HK1 was set to GREEN Added comment: PMID 38617198 reports 15 individuals from 14 unrelated families with heterozygous de novo missense HK1 variants causing a neurodevelopmental disorder with early‑onset developmental and epileptic encephalopathy, static encephalopathy, movement disorder, retinitis pigmentosa, low CSF glucose and elevated lactate, consistent with mitochondrial dysfunction. PMID 40469904 reports 22 individuals from 19 unrelated families with heterozygous missense HK1 variants causing neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA), featuring intellectual disability, hypotonia, epileptic encephalopathy, visual impairment, Leigh‑like MRI changes and elevated lactate. Sources: Literature |
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