Hereditary Neuropathy_CMT - isolated
Gene: YARSEnsemblGeneIds (GRCh38): ENSG00000134684
EnsemblGeneIds (GRCh37): ENSG00000134684
OMIM: 603623, Gene2Phenotype
YARS is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported.Created: 11 May 2021, 10:31 a.m. | Last Modified: 11 May 2021, 10:31 a.m.
Panel Version: 0.145
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Publications
Dean Phelan (Victorian Clinical Genetics Services)
Seven affected children from a consanguineous family homozygous for a missense variant. Affected children expressed a more severe phenotype than previously reported, including poor growth, developmental delay, brain dysmyelination, sensorineural hearing loss,nystagmus, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent proteinuria, recurrent bloodstream infections and chronic pulmonary disease. Carriers were asymptomatic (PMID: 30304524).
Homozygous missense variant in a patient with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease (PMID: 29232904)
Compound heterozygous variants identified in two siblings with failure to thrive (FTT), hypertriglyceridemia, developmental delay, liver dysfunction, lung cysts, and abnormal subcortical white matter (PMID: 27633801).
Note: loss of function is the mechanism of disease for the multisystem phenotypes mentioned in the above publications.
Dominant variants in YARS cause CMT in multiple patients. Functional studies performed in drosophila of 3 heterozygous missense variants recapitulate several features of human disease. Suspected gain of function disease mechanism (PMID: 19561293)Created: 20 Apr 2020, 3:15 a.m. | Last Modified: 20 Apr 2020, 3:15 a.m.
Panel Version: 0.2364
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
peripheral neuropathy; multisystem disease; CMT
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323
- MONDO:0012012
- OMIM
- 603623
- Clinvar variants
- Variants in YARS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: yars has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: YARS were changed from Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: YARS were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: YARS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: YARS was added gene: YARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN