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Retinal disorders

Gene: TUBGCP4

Amber List (moderate evidence)

TUBGCP4 (tubulin gamma complex associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000137822
EnsemblGeneIds (GRCh37): ENSG00000137822
OMIM: 609610, Gene2Phenotype
TUBGCP4 is in 8 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families and a zebrafish model.
Created: 15 Oct 2020, 8:11 a.m. | Last Modified: 15 Oct 2020, 8:11 a.m.
Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ivone Leong (Genomics England Curator)

I don't know

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 27 Jan 2021, 4:35 p.m. | Last Modified: 27 Jan 2021, 4:35 p.m.
Panel Version: 2.163
Comment on publications: PMID: 33137195 extra case
Created: 27 Jan 2021, 4:34 p.m. | Last Modified: 27 Jan 2021, 4:34 p.m.
Panel Version: 2.163
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335
Tags
for-review
OMIM
609610
Clinvar variants
Variants in TUBGCP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: TUBGCP4.

27 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TUBGCP4 were set to 25817018; 32270730

27 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335

27 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TUBGCP4 were set to

27 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TUBGCP4 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: TUBGCP4 was added gene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: TUBGCP4 was set to