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  3. HSD17B10
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Fetal anomalies

Gene: HSD17B10

Amber List (moderate evidence)
HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
EnsemblGeneIds (GRCh38): ENSG00000072506
EnsemblGeneIds (GRCh37): ENSG00000072506
OMIM: 300256, Gene2Phenotype
HSD17B10 is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction.

Some males have been reported to have severe infantile form associated with cardiomyopathy that may result in death in early childhood
Created: 24 Jan 2022, 5:41 a.m. | Last Modified: 24 Jan 2022, 5:41 a.m.
Panel Version: 0.2712

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jan 2022, 5:41 a.m.
Last Modified: 24 Jan 2022, 5:41 a.m.
Panel version: 0.2712

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • HSD10 mitochondrial disease, MIM# 300438
OMIM
300256
Clinvar variants
Variants in HSD17B10
Penetrance
None
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd17b10 has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSD17B10 were changed from 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 to HSD10 mitochondrial disease, MIM# 300438

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd17b10 has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD17B10 was added gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10