Ciliary Dyskinesia
Gene: SPAG1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 15 unrelated families reported.
Created: 18 Oct 2020, 10:22 a.m. | Last Modified: 18 Oct 2020, 10:23 a.m.

Panel Version: 0.185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 28 (MIM#615505)

Publications

Created: 18 Oct 2020, 10:22 a.m.
Last Modified: 18 Oct 2020, 10:23 a.m.
Panel version: 0.184

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 24055112; Reported biallelic LoF variants in 11 families with PCD.
Created: 6 May 2020, 1:26 a.m. | Last Modified: 6 May 2020, 1:26 a.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 28 (MIM#615505)

Publications

24055112

Created: 6 May 2020, 1:26 a.m.
Last Modified: 6 May 2020, 1:26 a.m.
Panel version: 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 28 (MIM#615505)

OMIM

603395

Clinvar variants

Variants in SPAG1

Penetrance

None

Publications

Panels with this gene