Primary ovarian insufficiency

Gene: HSD17B4

Green List (high evidence)

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 15 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Another Perrault syndrome 1 gene associated with POI
Created: 9 Jun 2017, 3:12 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Biallelic mutations cause Perrault syndrome of which POI can be a feature
Created: 22 May 2017, 9:44 a.m.
Ovarian dysgenesis is part of the Perrault syndrome 1 phenotype
Created: 19 May 2017, 2:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 1 233400

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