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Mendeliome

Gene: HSD17B4

Green List (high evidence)

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 18 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years.

Less severe presentations have been termed type IV deficiency or Perrault syndrome.
Created: 27 Jul 2021, 11:08 p.m. | Last Modified: 27 Jul 2021, 11:08 p.m.
Panel Version: 0.8538

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27790638: type I deficiency associated with nonsense and deletion mutations, type II associated with missense mutations in the hydratase unit, and type III associated with missense mutations in the hydroxyacyl-CoA dehydrogenase unit. All juvenile DBP deficiency cases reported by Amor, D.J. et al., 2016 were cHet (either 2 missense or 1 missense + 1 nonsense/del)
Created: 27 Jul 2021, 7:24 a.m. | Last Modified: 27 Jul 2021, 7:24 a.m.
Panel Version: 0.8538

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)

Publications

History Filter Activity

27 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsd17b4 has been classified as Green List (High Evidence).

27 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)

27 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSD17B4 were set to

27 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSD17B4 was added gene: HSD17B4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HSD17B4 was set to Unknown