Neonatal cholestasis
Gene: HSD17B4Comment on list classification: Cholestasis is seen in only 9% of patients with this protein deficiency. Red review from expert, therefore keep at red at this time.Created: 25 Jul 2018, noon
Comment on mode of inheritance: OMIM and G2P support a biallelic MOI for D-bifunctional protein deficiency (MIM:261515).Created: 25 Jul 2018, 11:04 a.m.
HSD17B4 encodes D-peroxisomal bifunctional enzyme, which functions in bile acid synthesis.Created: 25 Jul 2018, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
peroxisomal bifunctional protein deficiency; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: hsd17b4 has been classified as Red List (Low Evidence).
Gene: hsd17b4 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to Neonatal and Adult Cholestasis; D-bifunctional protein deficiency, 261515; peroxisomal bifunctional protein deficiency
Phenotypes for gene: HSD17B4 were set to Neonatal and Adult Cholestasis; D-bifunctional protein deficiency, 261515
Publications for gene: HSD17B4 were set to 22416181
HSD17B4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
HSD17B4 was created by Ellen McDonagh