Neonatal cholestasis
Gene: HSD17B4EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Cholestasis is seen in only 9% of patients with this protein deficiency. Red review from expert, therefore keep at red at this time.Created: 25 Jul 2018, noon
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: OMIM and G2P support a biallelic MOI for D-bifunctional protein deficiency (MIM:261515).Created: 25 Jul 2018, 11:04 a.m.
HSD17B4 encodes D-peroxisomal bifunctional enzyme, which functions in bile acid synthesis.Created: 25 Jul 2018, 11 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
peroxisomal bifunctional protein deficiency; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- D-bifunctional protein deficiency, 261515
- peroxisomal bifunctional protein deficiency
- OMIM
- 601860
- Clinvar variants
- Variants in HSD17B4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- DDG2P
- Primary ovarian insufficiency
- Intellectual disability
- Monogenic hearing loss
- Neonatal cholestasis
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: hsd17b4 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: hsd17b4 has been classified as Red List (Low Evidence).
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: HSD17B4 were set to Neonatal and Adult Cholestasis; D-bifunctional protein deficiency, 261515; peroxisomal bifunctional protein deficiency
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: HSD17B4 were set to Neonatal and Adult Cholestasis; D-bifunctional protein deficiency, 261515
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: HSD17B4 were set to 22416181
Added New Source
Ellen McDonagh (Genomics England Curator)HSD17B4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)HSD17B4 was created by Ellen McDonagh