TOE1

target of EGR1, exonuclease
OMIM: 613931, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TOE1 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	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 0.293	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia, type 7 (MIM#614969)
Green TOE1 in Mendeliome Version 1.1891	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 0.6063	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 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Green TOE1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive