TUBGCP6:Ensemblv115

tubulin gamma complex component 6
OMIM: 610053, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TUBGCP6 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
  • Literature
  • Expert Review Green
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270
  • Epilepsy

Green TUBGCP6 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TUBGCP6 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • RetNet
  • Expert Review Green
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270

Green TUBGCP6 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
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)

Green TUBGCP6 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270

Green TUBGCP6 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270