| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.69 | HSD17B4 | Bryony Thompson Marked gene: HSD17B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.69 | HSD17B4 | Bryony Thompson Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.69 | HSD17B4 | Bryony Thompson Classified gene: HSD17B4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.69 | HSD17B4 | Bryony Thompson Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.68 | HSD17B4 |
Bryony Thompson gene: HSD17B4 was added gene: HSD17B4 was added to Ataxia. Sources: Literature Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 42231982; 41367148; 40102401; 39379670; 38249302; 32042923; 28830375; 27790638; 27528516 Phenotypes for gene: HSD17B4 were set to Perrault syndrome 1, MONDO:0009300; d-bifunctional protein deficiency, MONDO:0009855 Review for gene: HSD17B4 was set to GREEN Added comment: Both d‑bifunctional protein deficiency and Perrault syndrome caused by biallelic HSD17B4 variants present with cerebellar ataxia, making HSD17B4 relevant to the Ataxia panel. PMID 41367148, PMID 40102401, PMID 27790638, PMID 32042923 and PMID 42231982 together report 11 families (10 independent) with loss‑of‑function HSD17B4 variants causing d‑bifunctional protein deficiency, featuring early‑ to adult‑onset cerebellar ataxia, hearing loss and sometimes seizures or hypergonadotropic hypogonadism. Functional studies in patient fibroblasts, mouse knock‑out models and cilia‑rescue experiments support pathogenicity. Additionally, three families (PMID 27528516, PMID 38249302, PMID 28830375) report Perrault syndrome with ataxia, hearing loss and ovarian dysgenesis (or male infertility). Sources: Literature |
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