IRF2BP1

interferon regulatory factor 2 binding protein 1
OMIM: 615331, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber IRF2BP1 in Mendeliome


Version 1.5025

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, IRF2BP1-related

Amber IRF2BP1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.444

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, IRF2BP1-related

Amber IRF2BP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.831

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, IRF2BP1-related