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| Likely inborn error of metabolism - targeted testing not possible v4.127 | HSD17B10 | Arina Puzriakova Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.126 | HSD17B10 | Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.156 | HSD17B10 | Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.156 | HSD17B10 |
Sarah Leigh Added comment: Comment 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. |
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| Likely inborn error of metabolism - targeted testing not possible v1.156 | HSD17B10 | Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.155 | HSD17B10 | Sarah Leigh Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.154 | HSD17B10 | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual_disability;HSD10 mitochondrial disease 300438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.154 | HSD17B10 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | HSD17B10 |
Sarah Leigh 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) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HSD17B10 |
Ivone Leong Source NHS GMS was added to HSD17B10. Source London North GLH was added to HSD17B10. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD17B10 |
Ellen McDonagh 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 |
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