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  3. TUBGCP4
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Structural eye disease

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 7 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Scheidecker: three families plus zebrafish model
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Promoted from amber to green as there is sufficient evidence.
Created: 24 Apr 2019, 2:35 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Scheidecker: three families plus zebrafish model
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.71

Details

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

History Filter Activity

24 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tubgcp4 has been classified as Green List (High Evidence).

24 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tubgcp4 has been classified as Green List (High Evidence).

17 Apr 2019, Gel status: 2

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TUBGCP4. Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4

3 Jan 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: TUBGCP4 was added gene: TUBGCP4 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP4 were set to 25817018 Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335