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  3. TUBGCP6
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Syndromic Retinopathy

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported.
Created: 15 Oct 2020, 8:14 a.m. | Last Modified: 15 Oct 2020, 8:14 a.m.
Panel Version: 0.145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Oct 2020, 8:14 a.m.
Last Modified: 15 Oct 2020, 8:14 a.m.
Panel version: 0.145

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
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

15 Oct 2020, 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).

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270

15 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBGCP6 were set to

15 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: TUBGCP6 was added gene: TUBGCP6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: TUBGCP6 was set to Unknown