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Prepair 1000+

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

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The MCCRP phenotypic eye spectrum has also been reported as variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment.

Onset in infancy
Created: 31 Jul 2024, 6:26 a.m. | Last Modified: 31 Jul 2024, 6:26 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

Publications

Created: 31 Jul 2024, 6:26 a.m.
Last Modified: 31 Jul 2024, 6:26 a.m.
Panel version: 1.65

Details

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

History Filter Activity

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

13 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: TUBGCP4 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBGCP4 was added gene: TUBGCP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)