STN1:Ensemblv115

STN1 subunit of CST complex
OMIM: 613128, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green STN1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

Green STN1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341

Green STN1 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

Green STN1 in Liver Failure_Paediatric


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341