MMS19

MMS19 cytosolic iron-sulfur assembly component
OMIM: 614777, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MMS19 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related

Red MMS19 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related

Red MMS19 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related

Red MMS19 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related