White matter disorders and cerebral calcification - narrow panel
Gene: HSD17B4

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

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Peroxisome-Associated Disorders & Zellweger Syndrome
General Leukodystrophy & Mitochondrial Leukoencephalopathy
D-bifunctional protein deficiency

OMIM

601860

Clinvar variants

Variants in HSD17B4

Penetrance

None

Publications

25655951

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HSD17B4 was added gene: HSD17B4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 25655951 Phenotypes for gene: HSD17B4 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; D-bifunctional protein deficiency