VWA1

von Willebrand factor A domain containing 1
OMIM: 611901, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green VWA1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary motor neuropathy

Green VWA1 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary motor neuropathy

Green VWA1_HMNMYO_GCGCGGAGCG STR in Mendeliome


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary motor, with myopathic features MIM#619216
Tags
  • paediatric-onset

Green VWA1_HMNMYO_GCGCGGAGCG STR in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary motor, with myopathic features MIM#619216
Tags
  • paediatric-onset

Green VWA1_HMNMYO_GCGCGGAGCG STR in Repeat Disorders


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary motor, with myopathic features MIM#619216
Tags
  • paediatric-onset