DDG2P
Gene: KARS

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668).

The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:30 p.m.

Panel Version: 3.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916; KARS1-related leukoencephalopathy with or without deafness, OMIM:619147

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:30 p.m.
Panel version: 3.12

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Created: 6 Sep 2019, 12:08 p.m. | Last Modified: 6 Sep 2019, 12:08 p.m.

Panel Version: 1.80

Created: 6 Sep 2019, 12:08 p.m.
Last Modified: 6 Sep 2019, 12:08 p.m.
Panel version: 1.80

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

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: 29 Jan 2019, 12:14 p.m.

Original DDG2P rating: both DD and IF (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function.
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 1.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916
KARS1-related leukoencephalopathy with or without deafness, OMIM:619147

Tags

new-gene-name

OMIM

601421

Clinvar variants

Variants in KARS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KARS were changed from DEAFNESS, AUTOSOMAL RECESSIVE 89 613916; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 to DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916; KARS1-related leukoencephalopathy with or without deafness, OMIM:619147

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: KARS were updated from 23768514 to 20920668; 23768514

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

12 Jul 2019, Gel status: 3