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Fetal anomalies

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

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

4 patients from 3 families with biallelic variants reported, all with microcephaly < -3SD. All had a synonymous splice variant on one allele.
Sources: Literature
Created: 2 Sep 2020, 6:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335
OMIM
609610
Clinvar variants
Variants in TUBGCP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2022, 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).

18 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBGCP4 were changed from AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. to Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335

18 Jan 2022, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBGCP4 was added gene: TUBGCP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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 AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.