Callosome
Gene: NFIA

NFIA (nuclear factor I A)
EnsemblGeneIds (GRCh38): ENSG00000162599
EnsemblGeneIds (GRCh37): ENSG00000162599
OMIM: 600727, Gene2Phenotype
NFIA is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities (including corpus callosum anomalies) and intellectual disability, with or without urinary tract defects.
Created: 23 Mar 2022, 2 a.m. | Last Modified: 23 Mar 2022, 2 a.m.

Panel Version: 0.417

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain malformations with or without urinary tract defects - MIM#613735

Publications

Created: 23 Mar 2022, 2 a.m.
Last Modified: 23 Mar 2022, 2 a.m.
Panel version: 0.417

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Brain malformations with or without urinary tract defects - MIM#613735

OMIM

600727

Clinvar variants

Variants in NFIA

Penetrance

None

Publications

Panels with this gene