31 Jan 2024
Undiagnosed metabolic disorders v1.611
HSD17B10
Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438
15 Aug 2019
Undiagnosed metabolic disorders v1.165
HSD17B10
Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
15 Aug 2019
Undiagnosed metabolic disorders v1.165
HSD17B10
Sarah Leigh Added comment: Comment on list classification: 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.
15 Aug 2019
Undiagnosed metabolic disorders v1.165
HSD17B10
Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
15 Aug 2019
Undiagnosed metabolic disorders v1.164
HSD17B10
Sarah Leigh Publications for gene: HSD17B10 were set to 27604308
15 Aug 2019
Undiagnosed metabolic disorders v1.163
HSD17B10
Sarah Leigh Added comment: Comment on phenotypes: 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual disability;Intellectual_disability
15 Aug 2019
Undiagnosed metabolic disorders v1.163
HSD17B10
Sarah Leigh Phenotypes for gene: HSD17B10 were changed from 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual disability; Intellectual_disability to HSD10 mitochondrial disease 300438
15 Aug 2019
Undiagnosed metabolic disorders v1.162
HSD17B10
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.162
HSD17B10
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.162
HSD17B10
Sarah Leigh Deleted their comment
06 Jan 2017
Undiagnosed metabolic disorders
HSD17B10
Sarah Leigh edited their review of HSD17B10
06 Jan 2017
Undiagnosed metabolic disorders
HSD17B10
Sarah Leigh edited their review of HSD17B10
06 Jan 2017
Undiagnosed metabolic disorders
HSD17B10
Sarah Leigh edited their review of HSD17B10
06 Jan 2017
Undiagnosed metabolic disorders
HSD17B10
Sarah Leigh reviewed HSD17B10