Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: RORA

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least four cases with ataxia (PMID 29656859).
Created: 26 May 2021, 10:59 a.m. | Last Modified: 26 May 2021, 10:59 a.m.
Panel Version: 2.185
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 26 May 2021, 10:45 a.m. | Last Modified: 26 May 2021, 10:45 a.m.
Panel Version: 2.185

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
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060
  • intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745
Tags
Q2_21_rating
OMIM
600825
Clinvar variants
Variants in RORA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: RORA.

26 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rora has been classified as Amber List (Moderate Evidence).

26 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RORA were changed from Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060; intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745

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