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  3. TUBGCP4
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Syndromic Retinopathy

Gene: TUBGCP4

Green List (high evidence)
TUBGCP4 (tubulin gamma complex associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000137822
EnsemblGeneIds (GRCh37): ENSG00000137822
OMIM: 609610, Gene2Phenotype
TUBGCP4 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families and a zebrafish model.
Created: 15 Oct 2020, 8:05 a.m. | Last Modified: 15 Oct 2020, 8:05 a.m.
Panel Version: 0.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335

Publications

Created: 15 Oct 2020, 8:05 a.m.
Last Modified: 15 Oct 2020, 8:05 a.m.
Panel version: 0.142

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335
OMIM
609610
Clinvar variants
Variants in TUBGCP4
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: tubgcp4 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: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335

15 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBGCP4 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: TUBGCP4 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: TUBGCP4 was added gene: TUBGCP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: TUBGCP4 was set to Unknown