SREK1:Ensemblv115

splicing regulatory glutamic acid and lysine rich protein 1
OMIM: 609268, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SREK1 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Prader-Willi-like syndrome, SREK1-related MONDO:0008300