SPRTN

SprT-like N-terminal domain
OMIM: 616086, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SPRTN in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.21

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

Amber SPRTN in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

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

Green SPRTN in Mendeliome


Version 1.2374

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

Red SPRTN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200

Green SPRTN in Growth failure


Version 1.76

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