Ataxia and cerebellar anomalies - narrow panel
Gene: HARS
Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1Created: 7 Sep 2020, 12:47 p.m. | Last Modified: 7 Sep 2020, 12:47 p.m.
Panel Version: 2.12
Comment on list classification: Relevant phenotype for this panel but additional cases required. Therefore, rating Amber in anticipation of further publications.Created: 7 Sep 2020, 12:47 p.m. | Last Modified: 7 Sep 2020, 12:47 p.m.
Panel Version: 2.12
PMID: 32333447 (2020) - Three individuals from two unrelated families harbouring biallelic HARS variants. Manifestations included microcephaly, mild‐to severe ID, skeletal deformities, and ataxic broad base gait with clinical features affecting the cerebellar and pyramidal tract system. Some supportive functional analysis of the variants in skin fibroblasts and yeast.
Sources: LiteratureCreated: 7 Sep 2020, 12:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multisystem ataxic syndrome; Intellectual disability
Publications
Tag new-gene-name tag was added to gene: HARS.
Gene: hars has been classified as Amber List (Moderate Evidence).
gene: HARS was added gene: HARS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 32333447 Phenotypes for gene: HARS were set to Multisystem ataxic syndrome; Intellectual disability Review for gene: HARS was set to AMBER