06 Aug 2019
Early onset or syndromic epilepsy v1.191
HSD17B4
Rebecca Foulger Source Wessex and West Midlands GLH was added to HSD17B4.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
HSD17B4
Rebecca Foulger Source NHS GMS was added to HSD17B4.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
HSD17B4
Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
HSD17B4
Tracy Lester reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25882080, 27790638 ; Phenotypes: D-bifunctional protein deficiency, 261515, Perrault syndrome, 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
15 Nov 2018
Early onset or syndromic epilepsy v0.890
HSD17B4
Ivone Leong Marked gene: HSD17B4 as ready
15 Nov 2018
Early onset or syndromic epilepsy v0.890
HSD17B4
Ivone Leong Gene: hsd17b4 has been classified as Green List (High Evidence).
15 Nov 2018
Early onset or syndromic epilepsy v0.890
HSD17B4
Ivone Leong Classified gene: HSD17B4 as Green List (high evidence)
15 Nov 2018
Early onset or syndromic epilepsy v0.890
HSD17B4
Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as 3+ unrelated patients reported with D-bifunctional protein deficiency have variants in this gene and also have seizures. D-bifunctional protein deficiency is conformed to be associated with this gene on both OMIM and Gene2Phenotype.
15 Nov 2018
Early onset or syndromic epilepsy v0.890
HSD17B4
Ivone Leong Gene: hsd17b4 has been classified as Green List (High Evidence).
15 Nov 2018
Early onset or syndromic epilepsy v0.889
HSD17B4
Ivone Leong Publications for gene: HSD17B4 were set to 9345094; 9482850; 9915948; 11743515
15 Nov 2018
Early onset or syndromic epilepsy v0.888
HSD17B4
Ivone Leong Publications for gene: HSD17B4 were set to
15 Nov 2018
Early onset or syndromic epilepsy v0.887
HSD17B4
Ivone Leong Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
15 Nov 2018
Early onset or syndromic epilepsy v0.886
HSD17B4
Ivone Leong Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, 261515
15 Aug 2018
Early onset or syndromic epilepsy
HSD17B4
Zornitza Stark reviewed gene: HSD17B4
25 Jun 2018
Early onset or syndromic epilepsy
HSD17B4
Sarah Leigh Added gene to panel