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| Mendeliome v2.224 | chirag patel Added reviews for gene HSD17B7 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.223 | HSD17B7 | chirag patel Marked gene: HSD17B7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.223 | HSD17B7 | chirag patel Gene: hsd17b7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.223 | HSD17B7 |
chirag patel changed review comment from: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post- lanosterol cholesterol biosynthetic pathway. Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism. Sources: Literature; to: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post- lanosterol cholesterol biosynthetic pathway. Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in Hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism. Sources: Literature |
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| Mendeliome v2.223 | HSD17B7 |
chirag patel changed review comment from: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism. Sources: Literature; to: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post- lanosterol cholesterol biosynthetic pathway. Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism. Sources: Literature |
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| Mendeliome v2.223 | HSD17B7 |
chirag patel gene: HSD17B7 was added gene: HSD17B7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HSD17B7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSD17B7 were set to 42233258 Phenotypes for gene: HSD17B7 were set to Sensorineural hearing loss disorder, MONDO:0020678 Review for gene: HSD17B7 was set to RED Added comment: PMID 42233258 reports 1 individual from 1 family with a heterozygous nonsense HSD17B7 variant (p.Glu182Ter) presenting with bilateral profound congenital sensorineural hearing loss, 2 preauricular tags, but no systemic abnormalities. Parental segregation was declined by the family. The variant is present in 22 hets in gnomAD v4, and predicted to remove the transmembrane region and cytoplasmic domain. The variant is shown to reduce mRNA and protein levels and fails to rescue hair‑cell mechanotransduction and startle defects in hsd17b7 mutant zebrafish, supporting a loss‑of‑function haploinsufficiency mechanism. Sources: Literature |
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