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  3. YARS2
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Non-Fanconi anaemia

Gene: YARS2

Amber List (moderate evidence)
YARS2 (tyrosyl-tRNA synthetase 2)
EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 10 panels

1 review

Helen Savage (Congenica Ltd)

Green List (high evidence)

Possible Lebanese founder mutation p.Phe52Leu.
Created: 26 Jan 2016, 4:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis and sideroblastic anaemia type II

Publications

Created: 26 Jan 2016, 4:52 p.m.

Panel version: 0.228

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
  • Myopathy,lacticacidosis,andsideroblasticanemia2,613561
OMIM
610957
Clinvar variants
Variants in YARS2
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene YARS2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene YARS2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene YARS2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene YARS2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene YARS2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen