Likely inborn error of metabolism - targeted testing not possible
Gene: HSD17B10Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for 2-methyl-3-hydroxybutyrylL-coA dehydrogenase deficiency and for mental retardation syndromic X-linked type 10 . At least 8 variants reported.Created: 15 Aug 2019, 12:12 p.m. | Last Modified: 15 Aug 2019, 12:12 p.m.
Panel Version: 1.156
Comment on phenotypes: Intellectual disability;2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual_disability;HSD10 mitochondrial disease 300438Created: 15 Aug 2019, 12:02 p.m. | Last Modified: 15 Aug 2019, 12:02 p.m.
Panel Version: 1.154
Comment 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
Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308
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).
Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678
Phenotypes for gene: HSD17B10 were changed from Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability; HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease 300438
Source Expert Review Green was added to HSD17B10. Added phenotypes HSD10 mitochondrial disease 300438 for gene: HSD17B10 Publications for gene HSD17B10 were changed from 27604308 to 19706438; 22132097; 12696021; 26950678 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source NHS GMS was added to HSD17B10. Source London North GLH was added to HSD17B10.
Sarah Leigh: Associated with relevant pheno
gene: HSD17B10 was added gene: HSD17B10 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HSD17B10 were set to 27604308 Phenotypes for gene: HSD17B10 were set to Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability