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| Genetic Epilepsy v0.2149 | DOHH |
Andrew Fennell gene: DOHH was added gene: DOHH was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOHH were set to PMID: 30661771; 35858628 Phenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092) Review for gene: DOHH was set to GREEN Added comment: PMID: 35858628 - three of the five reported individuals with this neurodevelopmental disorder identified to have seizures. Two individuals had febrile seizures in mid-childhood with one going on to have generalised epilepsy. A third individual had generalised epilepsy. PMID: 30661771 - Of note, DOHH is a key part of the same two-step enzymatic pathway as DHPS which is also associated with a neurodevelopmental disorder that prominently features seizures. Sources: Literature |
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| Genetic Epilepsy v0.240 | DHPS | Zornitza Stark Marked gene: DHPS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.240 | DHPS | Zornitza Stark Gene: dhps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.240 | DHPS | Zornitza Stark Classified gene: DHPS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.240 | DHPS | Zornitza Stark Gene: dhps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.239 | DHPS |
Zornitza Stark gene: DHPS was added gene: DHPS was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHPS were set to 30661771 Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Review for gene: DHPS was set to GREEN gene: DHPS was marked as current diagnostic Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features. Sources: Expert list |
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