SREK1

splicing regulatory glutamic acid and lysine rich protein 1
OMIM: 609268, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

No list SREK1 in Mendeliome


Version 1.2672

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

No list SREK1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.177

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