Hereditary ataxia with onset in adulthood
Gene: RORAThe 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
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
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.
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.
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 ataxiaCreated: 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
Tag Q2_21_phenotype was removed from gene: RORA.
Source Expert Review Amber was added to RORA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: RORA were set to
Tag Q2_21_phenotype tag was added to gene: RORA.
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
Mode of inheritance for gene: RORA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Gene: rora has been classified as Green List (High Evidence).
Source London North GMS was added to RORA.
Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
Source NHS GMS was added to RORA.
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