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Hearing loss

Gene: YARS

Amber List (moderate evidence)

YARS (tyrosyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000134684
EnsemblGeneIds (GRCh37): ENSG00000134684
OMIM: 603623, Gene2Phenotype
YARS is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate C 608323
  • Intellectual disability
  • deafness
  • nystagmus
  • liver dysfunction
Tags
watchlist new-gene-name
OMIM
603623
Clinvar variants
Variants in YARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: YARS.

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: yars has been classified as Amber List (Moderate Evidence).

5 Aug 2020, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction

5 Aug 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: YARS was added gene: YARS was added to Hearing loss. Sources: Literature new-gene-name tags were added to gene: YARS. Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS were set to 30304524; 29232904; 27633801 Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction Review for gene: YARS was set to AMBER