Peroxisomal disorders

Gene: HSD17B4

Green List (high evidence)

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 14 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least seven variants reported
Created: 22 Aug 2016, 10:20 a.m.
Comment on phenotypes: Variants also reported in Perrault syndrome 1, 233400
Created: 22 Aug 2016, 10:19 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-BIFUNCTIONAL PROTEIN DEFICIENCY

Publications

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

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-bifunctional protein deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • D-bifunctional protein deficiency, 261515
OMIM
601860
Clinvar variants
Variants in HSD17B4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HSD17B4 were set to 16385454; 25655951

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HSD17B4 were set to D-bifunctional protein deficiency, 261515

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

HSD17B4 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,UKGTN

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HSD17B4 was created by sleigh

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

HSD17B4 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services