Predominantly Antibody Deficiency
Gene: KARSEnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 12 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Recurrent/severe infections (9/17) and B cell abnormalities (either B cell lymphopenia [3/9], hypogammaglobulinemia [either IgG, IgA or IgM; 6/15] or impaired vaccine responses [4/7]) have been reported in cases with KARS1-related disease.
Sources: Expert listCreated: 11 Nov 2024, 8:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple unrelated families reported, some with isolated deafness, isolated leukoencephalopathy, or both.Created: 3 Mar 2021, 2:15 a.m. | Last Modified: 3 Mar 2021, 2:15 a.m.
Panel Version: 0.6527
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
- OMIM
- 601421
- Clinvar variants
- Variants in KARS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Predominantly Antibody Deficiency
- Deafness_Isolated
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kars has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kars has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KARS was added gene: KARS was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 37770806 Phenotypes for gene: KARS were set to leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893 Review for gene: KARS was set to GREEN gene: KARS was marked as current diagnostic