VMA21:Ensemblv115

vacuolar ATPase assembly factor VMA21
OMIM: 300913, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VMA21 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, X-linked, with excessive autophagy (MIM#310440)

Green VMA21 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myopathy, X-linked, with excessive autophagy (MIM#310440)
Tags
  • deep intronic

Green VMA21 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive

Green VMA21 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Myopathy, X-linked, with excessive autophagy MIM#310440