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Mendeliome

Gene: SPEF2

Green List (high evidence)

SPEF2 (sperm flagellar 2)
EnsemblGeneIds (GRCh38): ENSG00000152582
EnsemblGeneIds (GRCh37): ENSG00000152582
OMIM: 610172, Gene2Phenotype
SPEF2 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional 4 families reported with bi-allelic variants. In addition to the sperm morphological abnormalities, affected individuals had recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype although 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.
Created: 22 Apr 2020, 8:40 p.m. | Last Modified: 22 Apr 2020, 8:40 p.m.
Panel Version: 0.2589

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 3 unrelated families reported, all PTVs or splice variant. Functional studies showed SPEF2 protein levels were reduced in patients’ spermatozoa. (PMIDs: 31151990, 31278745, 31048344).
Sources: Literature
Created: 20 Apr 2020, 4:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 43, MIM#618751

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spermatogenic failure 43, MIM#618751
  • Spermatogenic failure 43, MIM#618751
  • Primary ciliary dyskinesia-like phenotype
OMIM
610172
Clinvar variants
Variants in SPEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751 to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype

22 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spef2 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spef2 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: SPEF2 was added gene: SPEF2 was added to Mendeliome. 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 Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751 Review for gene: SPEF2 was set to GREEN gene: SPEF2 was marked as current diagnostic