Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: RORA

No list

RORA (RAR related orphan receptor A)
EnsemblGeneIds (GRCh38): ENSG00000069667
EnsemblGeneIds (GRCh37): ENSG00000069667
OMIM: 600825, Gene2Phenotype
RORA is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia. Postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Sources: Expert list
Created: 12 Sep 2020, 7:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060
OMIM
600825
Clinvar variants
Variants in RORA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RORA was added gene: RORA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RORA were set to 29656859 Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Review for gene: RORA was set to GREEN gene: RORA was marked as current diagnostic