Syndromic Retinopathy
Gene: HARSEnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 9 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
CMT - only missense reported, DN mechanism strongly suggested.
Usher syndrome type 3B (MIM#614504) - RED association. Clingen refutes this.
Galatolo (2020):
Multisystemic ataxic syndrome incl ID, microcephaly, skeletal deformities. Two unrelated families w/ biallelic variants and supporting functional studies -> LOF. Carrier parent/sib described as healthy.
Brozkova (2015): missense variants cannot rescue in yeast complementation assay. Acknowledges DN possibility
Meyer-Schuman and Antonellis (2021): Review, strongly suggests a DN mechanism for missense causing CMT.Created: 18 Feb 2021, 11:32 p.m. | Last Modified: 18 Feb 2021, 11:32 p.m.
Panel Version: 0.6404
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625; Usher syndrome type 3B MIM#614504; Multisystemic ataxic syndrome
Publications
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals from Amish background reported originally; gene-disease association assessed as REFUTED by ClinGen.Created: 31 Dec 2019, 2:43 a.m. | Last Modified: 31 Dec 2019, 2:43 a.m.
Panel Version: 0.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome type 3B, MIM# 614504
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- RetNet
- Victorian Clinical Genetics Services
- Phenotypes
-
- Usher syndrome type 3B
- OMIM
- 142810
- Clinvar variants
- Variants in HARS
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hars has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HARS was added gene: HARS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS were set to Usher syndrome type 3B