EIPR1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber EIPR1 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber EIPR1 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green