Intellectual disability syndromic and non-syndromic
Gene: NFIX

NFIX (nuclear factor I X)
EnsemblGeneIds (GRCh38): ENSG00000008441
EnsemblGeneIds (GRCh37): ENSG00000008441
OMIM: 164005, Gene2Phenotype
NFIX is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behaviour anomalies are present. Well established gene-disease association.

Marshall-Smith syndrome is allelic and characterised by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, ID, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.

Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome.
Created: 3 Oct 2024, 1:32 a.m. | Last Modified: 3 Oct 2024, 1:32 a.m.

Panel Version: 0.6304

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535

Publications

PMID: 33034087, 29897170, 30548146, 25118028

Created: 3 Oct 2024, 1:32 a.m.
Last Modified: 3 Oct 2024, 1:32 a.m.
Panel version: 0.6304

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Sotos syndrome 2 (MIM#614753)
Marshall-Smith syndrome, MIM# 602535

OMIM

164005

Clinvar variants

Variants in NFIX

Penetrance

None

Publications

Panels with this gene