IMPA1

inositol monophosphatase 1
OMIM: 602064, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber IMPA1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability, autosomal recessive 59 MONDO:0015020

Amber IMPA1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 59, MIM#617323