SPEF2

sperm flagellar 2
OMIM: 610172, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list SPEF2 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Spermatogenic failure 43, MIM#618751
  • Primary ciliary dyskinesia-like phenotype
Green SPEF2 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spermatogenic failure 43, OMIM:618751, MONDO:0032898
  • Primary ciliary dyskinesia-like phenotype