ATP5MC3

ATP synthase membrane subunit c locus 3
OMIM: 602736, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ATP5MC3 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Tags
  • new gene name

Red ATP5MC3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia MIM#619681
Tags
  • new gene name

Green ATP5MC3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Tags
  • new gene name

Green ATP5MC3 in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681
Tags
  • new gene name

Green ATP5MC3 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Tags
  • new gene name