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Fetal anomalies

Gene: TUBGCP6

Green List (high evidence)
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)

Green List (high evidence)

Originally reported in Mennonite families (founder effect) but three unrelated families reported subsequently.
Created: 31 Jan 2020, 9 a.m. | Last Modified: 31 Jan 2020, 9 a.m.
Panel Version: 0.1812

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Jan 2020, 9 a.m.
Last Modified: 31 Jan 2020, 9 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1812

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
OMIM
610053
Clinvar variants
Variants in TUBGCP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubgcp6 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBGCP6 were changed from MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBGCP6 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBGCP6 was added gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION