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Prepair 1000+

Gene: SPAG1

Green List (high evidence)
SPAG1 (sperm associated antigen 1)
EnsemblGeneIds (GRCh38): ENSG00000104450
EnsemblGeneIds (GRCh37): ENSG00000104450
OMIM: 603395, Gene2Phenotype
SPAG1 is in 6 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms. Present at birth or within first months of life. At least 11 unrelated families reported.
Animal model present (Zebrafish).
Created: 25 Sep 2024, 11:50 a.m. | Last Modified: 25 Sep 2024, 11:50 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 28 MIM#615505

Publications

Created: 25 Sep 2024, 11:50 a.m.
Last Modified: 25 Sep 2024, 11:50 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505 (3)
OMIM
603395
Clinvar variants
Variants in SPAG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: spag1 has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SPAG1 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: SPAG1 was added gene: SPAG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)