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Intellectual disability

Gene: YARS

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

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, 4:41 p.m. | Last Modified: 5 Aug 2020, 4:41 p.m.
Panel Version: 3.227
Comment on list classification: 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. He speaks and understands English and Polish.
Created: 6 Jul 2020, 6:25 p.m. | Last Modified: 7 Jul 2020, 2:55 p.m.
Panel Version: 3.144
The new gene for YARS is YARS1
Created: 6 Jul 2020, 5:43 p.m. | Last Modified: 6 Jul 2020, 5:43 p.m.
Panel Version: 3.143

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Created: 23 Apr 2020, 3:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; deafness; nystagmus; liver dysfunction

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: YARS were changed from 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: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: YARS.

6 Jul 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).

6 Jul 2020, Gel status: 0

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: YARS.

6 Jul 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: YARS.

6 Jul 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: YARS.

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: YARS was added gene: YARS was added to Intellectual disability. Sources: Literature 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 Intellectual disability; deafness; nystagmus; liver dysfunction Review for gene: YARS was set to GREEN gene: YARS was marked as current diagnostic