Early onset or syndromic epilepsy
Gene: HSD17B4
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Promoted from amber to green as 3+ unrelated patients have been reported with D-bifunctional protein deficiency with different variants in HSD17B4 and also have seizures. D-bifunctional protein deficiency is conformed to be associated with this gene on both OMIM and Gene2Phenotype.Created: 15 Nov 2018, 4:15 p.m.
Seizures are a common feature of this metabolic disorder.Created: 15 Aug 2018, 1:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-bifunctional protein deficiency, MIM#261515
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to HSD17B4.
Source NHS GMS was added to HSD17B4.
Zornitza Stark: Seizures are a common feature
Gene: hsd17b4 has been classified as Green List (High Evidence).
Gene: hsd17b4 has been classified as Green List (High Evidence).
Publications for gene: HSD17B4 were set to 9345094; 9482850; 9915948; 11743515
Publications for gene: HSD17B4 were set to
Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, 261515
Expert Review Amber was added to HSD17B4. Panel: Genetic Epilepsy Syndromes
HSD17B4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
HSD17B4 was created by Sarah Leigh