UBQLN2

ubiquilin 2
OMIM: 300264, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UBQLN2 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)

Green UBQLN2 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis type 15 (MONDO:0010459
  • MIM#300857)

Green UBQLN2 in Incidentalome


Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459
  • MIM#300857)

Green UBQLN2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services