This Panel is marked as Internal
Other peroxisomal disorders
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
1 review
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-bifunctional protein deficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- D-bifunctional protein deficiency, 261515
- Perrault syndrome 1, 233400
- Peroxisomal Bifunctional Enzyme Deficiency
- OMIM
- 601860
- Clinvar variants
- Variants in HSD17B4
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- White matter disorders and cerebral calcification - narrow panel
- Likely inborn error of metabolism
- Intellectual disability
- Peroxisomal disorders
- DDG2P
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
7 Aug 2015, Gel status: 2
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene HSD17B4 was changed to BIALLELIC, autosomal or pseudoautosomal
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)HSD17B4 was added to Other peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)HSD17B4 was added to Other peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen