TOE1

target of EGR1, exonuclease
OMIM: 613931, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TOE1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 7, MIM# 614969

Green TOE1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Pontocerebellar hypoplasia, type 7 (MIM#614969)

Green TOE1 in Mendeliome


Version 1.2656

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 7, MIM# 614969

Green TOE1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.174

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pontocerebellar hypoplasia, type 7, MIM# 614969

Green TOE1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive

Green TOE1 in Fetal anomalies


Version 1.370

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Pontocerebellar hypoplasia, type 7, OMIM:614969
  • Pontocerebellar hypoplasia type 7, MONDO:0013993

Green TOE1 in Prepair 1000+


Level 2: Screening
Version 2.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 7 MIM#614969

Green TOE1 in Prepair 500+


Level 2: Screening
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 7 MIM#614969