Genes in panel

Hereditary ataxia - adult onset

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

5 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset phenotype.
Created: 26 May 2021, 10:40 a.m. | Last Modified: 26 May 2021, 10:40 a.m.
Panel Version: 2.66

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This is a childhood onset disorder.
Created: 12 Sep 2020, 7:39 a.m. | Last Modified: 12 Sep 2020, 7:39 a.m.
Panel Version: 2.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

At least 11 unrelated indvididuals. Developmental disorder but ataxia is a prominent feature. Not on Ox or Shef.
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple individuals and de novo variants reported in original paper. Haploinsufficient type variants seem to be associated with ID and autism while dominant negative missense variants result in phenotype including cerebellar atrophy and ataxia
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
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
OMIM
600825
Clinvar variants
Variants in RORA
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: RORA.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to RORA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

26 May 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RORA were set to

26 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: RORA.

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RORA were changed from Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 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

27 Apr 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RORA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Apr 2019, Gel status: 3

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: RORA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to RORA.

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RORA.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RORA was added gene: RORA was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RORA was set to