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Intellectual disability

Gene: KARS

Green List (high evidence)

KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 12 panels

5 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green based on the evidence provided by Zornitza Stark (Australian Genomics) and Konstantinos Varvagiannis, which shows that there are enough cases to support gene-disease association.
Created: 14 Feb 2019, 2:24 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 6 individuals reported with childhood-onset intellectual disability, seizures, leucoencephalopathy, microcephaly.
Created: 21 Dec 2018, 4:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Several individuals with biallelic pathogenic variants in KARS have been reported (summarized in PMIDs : 29615062, 30252186, 28496994).

Developmental delay and/or intellectual disability are among the (most) frequent features, although not universal.

Seizures are part of the phenotype (15-30% of the individuals) according to the tables provided in these 3 publications.

KARS is included in DD/ID gene panels offered by different diagnostic labs.

As a result it can be considered for inclusion in the intellectual disability panel as green.
Created: 17 Oct 2018, 12:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Global developmental delay; Intellectual disability; Seizures; Charcot-Marie-Tooth disease, recessive intermediate, B - 613641; Deafness, autosomal recessive 89 - 613916

Publications

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function; All missense/in frame
Created: 27 Jul 2017, 6:57 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; neuro_20160418_strict; Loss of function; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Created: 6 Sep 2019, 12:07 p.m. | Last Modified: 6 Sep 2019, 12:07 p.m.
Panel Version: 2.1022
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:07 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Tags
new-gene-name
OMIM
601421
Clinvar variants
Variants in KARS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

14 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kars has been classified as Green List (High Evidence).

14 Feb 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KARS were changed from ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 to Global developmental delay; Intellectual disability; Seizures; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916

14 Feb 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KARS were set to 29615062; 30252186; 28496994; 28887846, 25330800

14 Feb 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KARS were set to

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

KARS was created by BRIDGE

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

KARS was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene