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Prepair 1000+

Gene: HSD17B10

Green List (high evidence)

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Severity of phenotype is not related to residual enzyme activity (OMIM).
Created: 27 Jan 2025, 9:30 p.m. | Last Modified: 27 Jan 2025, 9:30 p.m.
Panel Version: 1.1348

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • HSD10 mitochondrial disease, MIM#300438
OMIM
300256
Clinvar variants
Variants in HSD17B10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd17b10 has been classified as Green List (High Evidence).

28 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSD17B10 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes HSD10 mitochondrial disease for gene: HSD17B10

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 HSD10 mitochondrial disease