Microcephaly
Gene: TUBGCP6Comment 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
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
Gene: tubgcp6 has been classified as Green List (High Evidence).
Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Publications for gene: TUBGCP6 were set to
Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: TUBGCP6 was added gene: TUBGCP6 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBGCP6 was set to Unknown