Respiratory ciliopathies including non-CF bronchiectasis
Gene: GOLGA3
GOLGA3 (golgin A3)
EnsemblGeneIds (GRCh38): ENSG00000090615
EnsemblGeneIds (GRCh37): ENSG00000090615
OMIM: 602581, Gene2Phenotype
GOLGA3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000090615
EnsemblGeneIds (GRCh37): ENSG00000090615
OMIM: 602581, Gene2Phenotype
GOLGA3 is in 1 panel
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the available evidence this gene has been given a Red rating.Created: 2 Dec 2020, 11:21 a.m. | Last Modified: 2 Dec 2020, 11:21 a.m.
Panel Version: 1.18
Zornitza Stark (Australian Genomics)
PMID 32367404: Two siblings with a homozygous missense and PCD. PMID: 23495255; null mice have failed spermatogenesis
Sources: LiteratureCreated: 5 Oct 2020, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Primary ciliary dyskinesia
- OMIM
- 602581
- Clinvar variants
- Variants in GOLGA3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Dec 2020, Gel status: 1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: golga3 has been classified as Red List (Low Evidence).
5 Oct 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: GOLGA3 was added gene: GOLGA3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: GOLGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOLGA3 were set to 23495255; 32367404 Phenotypes for gene: GOLGA3 were set to Primary ciliary dyskinesia Review for gene: GOLGA3 was set to RED