TMTC3:Ensemblv115

transmembrane O-mannosyltransferase targeting cadherins 3
OMIM: 617218, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TMTC3 in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Lissencephaly 8 (MIM#617255)

Red TMTC3 in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Lissencephaly 8 (MIM#617255)

Green TMTC3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Lissencephaly 8, MIM#617255

Green TMTC3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Lissencephaly 8, 617255 (3), Autosomal recessive

Green TMTC3 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Lissencephaly 8 (MIM#617255)

Green TMTC3 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Lissencephaly 8 MIM#617255, MONDO:0014992

Green TMTC3 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Lissencephaly 8 MIM#617255, MONDO:0014992