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  3. HSD17B3
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Differences of Sex Development

Gene: HSD17B3

Green List (high evidence)
HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3)
EnsemblGeneIds (GRCh38): ENSG00000130948
EnsemblGeneIds (GRCh37): ENSG00000130948
OMIM: 605573, Gene2Phenotype
HSD17B3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 8 Nov 2021, 7:56 a.m. | Last Modified: 8 Nov 2021, 7:56 a.m.
Panel Version: 0.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudohermaphroditism, male, with gynecomastia MIM#264300

Publications

Created: 8 Nov 2021, 7:56 a.m.
Last Modified: 8 Nov 2021, 7:56 a.m.
Panel version: 0.220

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohermaphroditism, male, with gynecomastia MIM#264300
OMIM
605573
Clinvar variants
Variants in HSD17B3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd17b3 has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSD17B3 were changed from to Pseudohermaphroditism, male, with gynecomastia MIM#264300

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSD17B3 were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HSD17B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD17B3 was added gene: HSD17B3 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSD17B3 was set to Unknown