RORA

RAR related orphan receptor A
OMIM: 600825, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RORA in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060

Green RORA in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060

Green RORA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review 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

Green RORA in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060

Amber RORA in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060