Genomics England
GMS Panels
Panels
Genes and Entities

ERI1

exoribonuclease 1
OMIM: 608739
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ERI1-related brachydactyly and mild neurodevelopmental delay, ERI1-related severe growth restriction and skeletal dysplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Guo-Campeau type, OMIM:620663, Hoxha-Aliu syndrome, OMIM:620662
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, MONDO:0001071
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spondyloepimetaphyseal dysplasia, MONDO:0100510