Inherited white matter disorders
Gene: HSD17B4EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for D-bifunctional protein deficiency, and more than 3 cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for D-bifunctional protein deficiency. Green gene in the ID panel version 1.2.Created: 16 Aug 2016, 11:27 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_646
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peroxisome-Associated Disorders & Zellweger Syndrome
- D-bifunctional protein deficiency
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 601860
- Clinvar variants
- Variants in HSD17B4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Peroxisomal disorders
- Likely inborn error of metabolism
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Neonatal cholestasis
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HSD17B4 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;D-bifunctional protein deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HSD17B4 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ian Berry (Leeds Genetics Laboratory)HSD17B4 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)HSD17B4 was added to Inherited white matter disorderspanel. Sources: Expert list