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Fetal anomalies

Gene: KARS

Red List (low evidence)
KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Created: 6 Sep 2019, 12:09 p.m. | Last Modified: 6 Sep 2019, 12:09 p.m.
Panel Version: 0.339
Created: 6 Sep 2019, 12:09 p.m.
Last Modified: 6 Sep 2019, 12:09 p.m.
Panel version: 0.339

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KARS gene rating from Amber to Red.
Created: 24 Mar 2019, 9:26 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for both CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B and DEAFNESS, AUTOSOMAL RECESSIVE 89.
Created: 6 Dec 2018, 10:07 a.m.
In the original PAGE file, MOP listed as LOF for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, and listed as All missense/in frame for DEAFNESS, AUTOSOMAL RECESSIVE 89.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
  • DEAFNESS, AUTOSOMAL RECESSIVE 89
Tags
new-gene-name
OMIM
601421
Clinvar variants
Variants in KARS
Penetrance
None
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to KARS. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to KARS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 for gene: KARS

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KARS was added gene: KARS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B