Primary ciliary disorders

Gene: SPEF2

No list

SPEF2 (sperm flagellar 2)
EnsemblGeneIds (GRCh38): ENSG00000152582
EnsemblGeneIds (GRCh37): ENSG00000152582
OMIM: 610172, Gene2Phenotype
SPEF2 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating suggested.
Sources: Literature
Created: 23 Apr 2020, 3:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Spermatogenic failure 43, MIM#618751
  • Primary ciliary dyskinesia-like phenotype
Clinvar variants
Variants in SPEF2
Panels with this gene

History Filter Activity

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SPEF2 was added gene: SPEF2 was added to Primary ciliary disorders. Sources: Literature Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643 Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype Review for gene: SPEF2 was set to AMBER