1. Panels
  2. Fetal anomalies
  3. HSD17B4
Genes in panel
Prev Next

Fetal anomalies

Gene: HSD17B4

Green List (high evidence)
HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for PERRAULT SYNDROME and Confirmed for D-BIFUNCTIONAL PROTEIN DEFICIENCY.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY for gene: HSD17B4

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: HSD17B4 was added gene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME