Neonatal cholestasis

Gene: HSD17B4

Red List (low evidence)

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

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
peroxisomal bifunctional protein deficiency; cholestasis

Details

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: hsd17b4 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: hsd17b4 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 1

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

25 Jul 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: HSD17B4 were set to Neonatal and Adult Cholestasis; D-bifunctional protein deficiency, 261515

25 Jul 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: HSD17B4 were set to 22416181

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HSD17B4 was created by Ellen McDonagh