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Prepair 1000+

Gene: RARS2

Green List (high evidence)

RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000146282
EnsemblGeneIds (GRCh37): ENSG00000146282
OMIM: 611524, Gene2Phenotype
RARS2 is in 14 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe, early-onset inherited mitochondrial disorder characterized by abnormally small cerebellum and brainstem and associated with severe developmental delay.
Created: 6 Jan 2025, 2:05 a.m. | Last Modified: 6 Jan 2025, 2:05 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, MIM#611523

Publications

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rars2 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, 611523 (3) to Pontocerebellar hypoplasia, type 6, MIM#611523

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RARS2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 (3) for gene: RARS2

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RARS2 was added gene: RARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)