Peroxisomal disorders
Gene: HSD17B4

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 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.

Created: 22 Aug 2016, 10:19 a.m.

Panel version: 0.42

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-BIFUNCTIONAL PROTEIN DEFICIENCY

Publications

25655951

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

Created: 19 Aug 2016, 2:01 p.m.

Panel version: 0.14

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-bifunctional protein deficiency

Publications

16385454

Created: 23 Feb 2016, 2:46 p.m.

Panel version: Imported from "Other peroxisomal disorders" panel version 0.0

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