PCDHA9

protocadherin alpha 9
OMIM: 606315, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PCDHA9 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976

Amber PCDHA9 in Incidentalome


Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976

Red PCDHA9 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease MONDO:0018309
  • root resorption MONDO:0001997