HSD17B4

• Haploinsufficiency score: Gene associated with autosomal recessive phenotype
• Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
• Haploinsufficiency Phenotype: PERRAULT SYNDROME 1; PRLTS1

Haploinsufficiency phenotype comments:

Variation in HSD17B4 has been associated with autosomal recessive Perrault syndrome and autosomal recessive DBP-deficiency; furthermore the overall evidence supporting the association between HSD17B4 and Perrault syndrome (lumped together with DBP-deficiency) has been assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation. Loss of function variants have been reported in the HSD17B4 gene, but have been reported in compound heterozygosity (Pierce et al. 2010, PMID 20673864; Lieber et al. 2014, PMID 24602372).

• Triplosensitivity score: 0
• Strength of Evidence (disclaimer): No evidence for dosage pathogenicity