Mitochondrial disorders
Gene: HSD17B10Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in numerous unrelated cases, together with supportive functional studies.Created: 16 Apr 2019, 2:23 p.m.
Multiple unrelated individuals reported in the literature with variants in this gene; XLD.Created: 30 Aug 2018, 5:08 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, MIM#300438
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438
Gene: hsd17b10 has been classified as Green List (High Evidence).
Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease 300438
Publications for gene: HSD17B10 were set to
Mode of inheritance for gene: HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
HSD17B10 was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
HSD17B10 was created by Sarah Leigh