1. Genes and Genomic Entities
  2. ERI1

ERI1

exoribonuclease 1
OMIM: 608739, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber ERI1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • spondyloepimetaphyseal dysplasia, MONDO:0100510
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Green ERI1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual disability, MONDO:0001071