Craniosynostosis

Gene: NFIA

Red List (low evidence)

NFIA (nuclear factor I A)
EnsemblGeneIds (GRCh38): ENSG00000162599
EnsemblGeneIds (GRCh37): ENSG00000162599
OMIM: 600727, Gene2Phenotype
NFIA is in 4 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

One patient with developmental delay, macrocephaly, hypoplastic corpus callosum, metopic synostosis, and hematuria has been described with an intragenic microdeletion of exons 49 of NFIA [Rao et al., 2014]. Additionally, a family (a father and 3 children) had a 109-kb deletion of chromosome 1p31.3 (deleting exons 1 and 2 of NFIA ) [Nyboe et al., 2015]. Their phenotype comprised sagittal or lambdoid suture synostosis, macrocephaly, developmental delay and mild mental retardation, overgrowth, bilateral proximally placed first fingers, and low-set ears [Nyboe et al., 2015].; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 11 Apr 2019, 8:40 a.m.

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NFIA; Suggested initial gene rating: amber
Created: 11 Apr 2019, 8:37 a.m.

Details

Sources
  • NHS GMS
OMIM
600727
Clinvar variants
Variants in NFIA
Penetrance
None
Panels with this gene

History Filter Activity

11 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: NFIA was added gene: NFIA was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: NFIA was set to