NDUFS1

NADH:ubiquinone oxidoreductase core subunit S1
OMIM: 157655, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green NDUFS1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Amber NDUFS1 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.54 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226
Amber NDUFS1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex I deficiency, MIM#252010
Green NDUFS1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 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 Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Green NDUFS1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Green NDUFS1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Green NDUFS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Green NDUFS1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial complex I deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy
Green NDUFS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, 252010 (3)
Green NDUFS1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226
Green NDUFS1 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Red NDUFS1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Green NDUFS1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM#618226