EIPR1

EARP complex and GARP complex interacting protein 1
OMIM: 608998, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EIPR1 in Mendeliome


Version 1.3490

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related

Green EIPR1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.352

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related

Green EIPR1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.398

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related