FDXR

ferredoxin reductase
OMIM: 103270, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FDXR in Mendeliome Version 1.3795	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM#617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Green FDXR in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.375	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Green FDXR in Optic Atrophy Level 2: Ophthalmological disorders Version 1.64 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM#617717
Green FDXR in Mitochondrial disease Level 2: Metabolic disorders Version 0.1275 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM#617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Green FDXR in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717
Green FDXR in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717
Green FDXR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Auditory neuropathy and optic atrophy, MIM# 617717
Green FDXR in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.158 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Red FDXR in Fetal anomalies Version 1.481	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Auditory neuropathy and optic atrophy, MIM# 617717