RORA

RAR related orphan receptor A
OMIM: 600825, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red RORA in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	review	Unknown	Sources Expert Review Red Literature Phenotypes risk of HSCR
Amber RORA in Ataxia and cerebellar anomalies - narrow panel Version 2.300 Latest signed off version: v2.23 (8 Oct 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list 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
Amber RORA in Fetal anomalies Version 1.905 Latest signed off version: v1.92 (21 Aug 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes INTELLECTUAL DISABILITY
Amber RORA in DDG2P Version 2.78 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Amber Phenotypes INTELLECTUAL DISABILITY
Green RORA in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.572 Latest signed off version: v2.2 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Green RORA in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1677 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Amber RORA in Hereditary ataxia - adult onset Version 2.158 Latest signed off version: v2.13 (6 Oct 2020)	review	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
Green RORA in Severe Paediatric Disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060