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Arthrogryposis

Gene: YARS2

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Comment on list classification: No association with arthrogryposis
Created: 4 Jan 2017, 1:30 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
OMIM
610957
Clinvar variants
Variants in YARS2
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

YARS2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

YARS2 was created by ellenmcdonagh