Laterality disorders and isomerism

Gene: SPAG1

Green List (high evidence)

On CGGL Royal Brompton panel. Good but limited literature evidence (single ref)

SPAG1 encodes a protein involved in the cytoplasmic assembly of ciliary dynein arms. Pathogenic variants are a cause of autosomal recessive PCD, and loss of function is the main disease mechanism (Knowles et al 2013 Am J Hum Genet 93(4):711-720).

Created: 25 Nov 2019, 11:22 p.m. | Last Modified: 25 Nov 2019, 11:22 p.m.

Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 615505 Ciliary dyskinesia, primary, 28

Publications

• 24055112

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SPAG1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 5 Dec 2018, 12:52 p.m.