Microcephaly
Gene: TUBGCP6

TUBGCP6 (tubulin gamma complex associated protein 6)
EnsemblGeneIds (GRCh38): ENSG00000128159
EnsemblGeneIds (GRCh37): ENSG00000128159
OMIM: 610053, Gene2Phenotype
TUBGCP6 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Originally reported in Mennonite families (founder effect) but three unrelated families reported subsequently.
Created: 31 Jan 2020, 8:57 a.m. | Last Modified: 31 Jan 2020, 8:57 a.m.

Panel Version: 0.78

Created: 31 Jan 2020, 8:57 a.m.
Last Modified: 31 Jan 2020, 8:57 a.m.
Panel version: 0.78

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Martin CA 2014 is the main and most recent paper, however OMIM cites other references with patient as well. Just a couple missense reported in trans with truncating variants, however no functional.
Created: 30 Jan 2020, 11:47 p.m. | Last Modified: 30 Jan 2020, 11:47 p.m.

Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 1

Publications

PMID: 25344692

Created: 30 Jan 2020, 11:47 p.m.
Last Modified: 30 Jan 2020, 11:47 p.m.
Panel version: 0.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270

OMIM

610053

Clinvar variants

Variants in TUBGCP6

Penetrance

None

Publications

25344692

Panels with this gene