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 1.42

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spermatogenic failure 43, OMIM:618751, MONDO:0032898
  • Primary ciliary dyskinesia-like phenotype
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review