NDUFAF2

NADH:ubiquinone oxidoreductase complex assembly factor 2
OMIM: 609653, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green NDUFAF2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral palsy
  • Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233)

Green NDUFAF2 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233

Green NDUFAF2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233

Green NDUFAF2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

2 reviews 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 10 - MIM#618233

Red NDUFAF2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233

Green NDUFAF2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233

Amber NDUFAF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, MIM#618233

Green NDUFAF2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome, 256000 (3)

Green NDUFAF2 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, 618233

Red NDUFAF2 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, MIM#618233

Green NDUFAF2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, MIM#618233

Green NDUFAF2 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, MIM#618233