SPNS2

sphingolipid transporter 2
OMIM: 612584, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SPNS2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 115, MIM# 618457

Amber SPNS2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 115, MIM# 618457

Amber SPNS2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 115, MIM# 618457