Anophthalmia or microphthalmia
Gene: TUBGCP4
TUBGCP4 (tubulin gamma complex associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000137822
EnsemblGeneIds (GRCh37): ENSG00000137822
OMIM: 609610, Gene2Phenotype
TUBGCP4 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000137822
EnsemblGeneIds (GRCh37): ENSG00000137822
OMIM: 609610, Gene2Phenotype
TUBGCP4 is in 7 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Microphthalmia in patients with compound het TUBGCP4 variants is recorded in 3 individuals from 2 families (PMID:25817018). Further cases are required to support causation so added 'watchlist' tag.Created: 10 Oct 2017, 10:14 a.m.
Added TUBGCP4 based on PMID:25817018 (2015) and clinical suggestion from Helen Brittain. PMID:25817018 (2015) examine 4 children from 3 unrelated families with compound-heterozygous mutations in TUBGCP4, including one synonymous variant common to all 3 families. Microphthalmia is recorded in 3 individuals from 2 families (summarised in Table 1).
Created: 10 Oct 2017, 10:04 a.m.
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 Amber
- Literature
- Phenotypes
-
- Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
- Tags
- OMIM
- 609610
- Clinvar variants
- Variants in TUBGCP4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
10 Oct 2017, Gel status: 2
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
10 Oct 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)TUBGCP4 was created by rfoulger
10 Oct 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)TUBGCP4 was added to Anophthalmia/microphthamiapanel. Sources: Literature