SPRTN

SprT-like N-terminal domain
OMIM: 616086, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SPRTN in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527

Amber SPRTN in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527

Green SPRTN in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527