NFIX

nuclear factor I X
OMIM: 164005, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NFIX in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber NFIX in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Malan syndrome MIM#614753
  • Marshall-Smith syndrome MIM#602535

Green NFIX in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Malan syndrome, MIM# 614753

Green NFIX in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NFIX in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sotos syndrome 2 (MIM#614753)
  • Marshall-Smith syndrome, MIM# 602535

Green NFIX in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sotos syndrome 2, MIM# 614753
  • Malan syndrome

Green NFIX in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NFIX in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Genetic Health Queensland
  • Expert Review Green

Green NFIX in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Marshall-Smith syndrome 602535
  • Sotos syndrome 2 614753

Green NFIX in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Sotos syndrome 2 (MIM#614753)
  • Marshall-Smith syndrome, MIM# 602535