1. Panels
  2. Newborns main panel
  3. SPAG1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: SPAG1

Green List (high evidence)
SPAG1 (sperm associated antigen 1)
EnsemblGeneIds (GRCh38): ENSG00000104450
EnsemblGeneIds (GRCh37): ENSG00000104450
OMIM: 603395, Gene2Phenotype
SPAG1 is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
SPAG1 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Primary Ciliary Dyskinesia 28
OMIM
603395
Clinvar variants
Variants in SPAG1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Primary Ciliary Dyskinesia 28 for gene: SPAG1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SPAG1. Added phenotypes Primary Ciliary Dyskinesia 28 for gene: SPAG1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SPAG1. Added phenotypes Primary Ciliary Dyskinesia 28 for gene: SPAG1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SPAG1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: SPAG1 was added gene: SPAG1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPAG1 were set to Primary Ciliary Dyskinesia 28