FXN

frataxin
OMIM: 606829, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red FXN in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.0 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Friedreich ataxia MIM#229300
Green FXN in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Friedreich ataxia MONDO:0100339
Green FXN in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Friedreich ataxia, MIM# 229300
Green FXN in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FXN in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia with retained reflexes,229300 Friedreich ataxia, 229300 Friedreichataxia, 229300 Tags STR
Green FXN in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green FXN in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia, 229300 Tags SV/CNV STR
Green FXN in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Friedreich ataxia, MIM# 229300 Tags STR
Green FXN in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Friedreich ataxia
Green FXN in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Friedreich ataxia MIM#229300 Tags STR
Red FXN in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Friedreich ataxia MONDO:0100339
Green FRDA STR in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green FRDA STR in Repeat Disorders Version 0.168	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags paediatric-onset