Primary ovarian insufficiency
Gene: HSD17B4
HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Another Perrault syndrome 1 gene associated with POICreated: 9 Jun 2017, 3:12 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Biallelic mutations cause Perrault syndrome of which POI can be a featureCreated: 22 May 2017, 9:44 a.m.
Ovarian dysgenesis is part of the Perrault syndrome 1 phenotypeCreated: 19 May 2017, 2:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 1 233400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Perrault syndrome 1 233400
- OMIM
- 601860
- Clinvar variants
- Variants in HSD17B4
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- DDG2P
- Primary ovarian insufficiency
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
22 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)HSD17B4 was created by arianna
19 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)HSD17B4 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature