AGAP1:Ensemblv90

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
OMIM: 608651, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber AGAP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy, MONDO:0006497, AGAP1-related
Tags
  • SV/CNV

Amber AGAP1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy, MONDO:0006497, AGAP1-related

Amber AGAP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Cerebral palsy, MONDO:0006497, AGAP1-related
Tags
  • SV/CNV