TUBGCP4

tubulin gamma complex component 4
OMIM: 609610, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red TUBGCP4 in Tubulinopathies


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 Red
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)

Green TUBGCP4 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TUBGCP4 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, 3, MIM# 616335

Green TUBGCP4 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, 3, 616335 (3)

Green TUBGCP4 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Literature
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335

Green TUBGCP4 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, 3, 616335 (3)