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  2. Ciliary Dyskinesia
  3. GOLGA3
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Ciliary Dyskinesia

Gene: GOLGA3

Red List (low evidence)
GOLGA3 (golgin A3)
EnsemblGeneIds (GRCh38): ENSG00000090615
EnsemblGeneIds (GRCh37): ENSG00000090615
OMIM: 602581, Gene2Phenotype
GOLGA3 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

https://link.springer.com/article/10.1007/s00439-020-02170-2
Two siblings with a homozygous missense and PCD

PMID: 23495255; null mice have failed spermatogenesis
Sources: Literature
Created: 5 Oct 2020, 5 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

Created: 5 Oct 2020, 5 a.m.

Panel version: 0.127

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ciliary dyskinesia
OMIM
602581
Clinvar variants
Variants in GOLGA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GOLGA3 were set to PMID: 23495255

5 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: golga3 has been classified as Red List (Low Evidence).

5 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Elena Savva (Victorian Clinical Genetics Services)

gene: GOLGA3 was added gene: GOLGA3 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: GOLGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOLGA3 were set to PMID: 23495255 Phenotypes for gene: GOLGA3 were set to Primary ciliary dyskinesia Review for gene: GOLGA3 was set to RED