NFIB

nuclear factor I B
OMIM: 600728, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red NFIB in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, MIM#618286

Green NFIB in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Tags
  • SV/CNV

Green NFIB in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Tags
  • SV/CNV

Green NFIB in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, MIM#618286

Green NFIB in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development - MIM#618286