Genomics England
GMS Panels
Panels
Genes and Entities

NFIA

nuclear factor I A
OMIM: 600727
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macrocephaly with intellectual disability
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain malformations with or without urinary tract defects, 613735, BRMUTD, Intellectual disability, Chromosome 1p32-p31 deletion syndrome, included
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Metopic synostosis, hydrocephalus, thin corpus callosum, mild developmental delay, autism, macrocephaly