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Intellectual disability syndromic and non-syndromic

Gene: RORA

Green List (high evidence)

RORA (RAR related orphan receptor A)
EnsemblGeneIds (GRCh38): ENSG00000069667
EnsemblGeneIds (GRCh37): ENSG00000069667
OMIM: 600825, Gene2Phenotype
RORA is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Sources: Expert list
Created: 9 Dec 2019, 8:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Other

Details

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

History Filter Activity

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RORA was added gene: RORA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. 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 Mode of pathogenicity for gene: RORA was set to Other Review for gene: RORA was set to GREEN