ERI1

exoribonuclease 1
OMIM: 608739, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ERI1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663

Green ERI1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hoxha-Aliu syndrome, MIM# 620662
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663

Green ERI1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hoxha-Aliu syndrome, MIM# 620662

Green ERI1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663

Green ERI1 in Multiple epiphyseal dysplasia and pseudoachondroplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663

Green ERI1 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663