SREK1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SREK1 in Mendeliome


Version 1.2899

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

Amber SREK1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.236

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

Amber SREK1 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.19

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