Mitochondrial disorders
Gene: HSD17B10

HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
EnsemblGeneIds (GRCh38): ENSG00000072506
EnsemblGeneIds (GRCh37): ENSG00000072506
OMIM: 300256, Gene2Phenotype
HSD17B10 is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

Created: 16 Apr 2019, 2:23 p.m.

Panel version: 1.164

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 30 Aug 2018, 5:08 a.m.

Panel version: 1.67

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

HSD10 mitochondrial disease, OMIM:300438

OMIM

300256

Clinvar variants

Variants in HSD17B10

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438

16 Apr 2019, Gel status: 3