NUP188

nucleoporin 188
OMIM: 615587, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NUP188 in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities
  • hypoventilation

Green NUP188 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sandestig-Stefanova syndrome MIM 618804

Green NUP188 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities
  • hypoventilation

Green NUP188 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities
  • hypoventilation

Green NUP188 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities
  • hypoventilation

Green NUP188 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities