Monogenic hearing loss

Gene: YARS

I don't know

The new gene for YARS is YARS1

Created: 5 Aug 2020, 4:57 p.m. | Last Modified: 5 Aug 2020, 4:57 p.m.

Panel Version: 2.40

Comment on phenotypes: Monoallelic variants are associated with Charcot-Marie-Tooth disease, dominant intermediate C 608323, while biallelic variants are associated with a complex phenotype that may include intellectual disability, hearing loss and liver damage.

Created: 5 Aug 2020, 4:55 p.m. | Last Modified: 5 Aug 2020, 4:55 p.m.

Panel Version: 2.39

Biallelic variants in three families with complex clinical conditions including developmental delay. PMID 30304524 reports an extended family with microcephaly, expressive language delay, hearing loss, amongst other features. PMID 29232904 reports a proband whose phenotype included hearing loss, retnititis pigmentosa and hypotonia, but did not include intellectual disability. PMID 27633801 reports two sibblings with hypotionia, the older brother at 15 years of age has mild delays, he attends school on an individualized educational program and functions at a grade 3 level, but not hearing loss was reported.
Sources: Literature

Created: 5 Aug 2020, 4:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction

Publications

• 30304524
• 29232904
• 27633801