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Fetal anomalies

Gene: NFIX

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both syndromes are relevant to this panel. Marshall-Smith is associated with congenital anomalies.
Created: 6 Dec 2021, 7:23 a.m. | Last Modified: 6 Dec 2021, 7:23 a.m.
Panel Version: 0.1051

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Marshall-Smith syndrome, MIM# 602535

Created: 6 Dec 2021, 7:23 a.m.
Last Modified: 6 Dec 2021, 7:23 a.m.
Panel version: 0.1051

Daniel Flanagan (Victorian Clinical Genetics Services)

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 behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. 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: 6 Dec 2021, 1:45 a.m. | Last Modified: 6 Dec 2021, 1:51 a.m.
Panel Version: 0.957

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome 2 (MIM#614753)

Publications

Created: 6 Dec 2021, 1:45 a.m.
Last Modified: 6 Dec 2021, 1:51 a.m.
Panel version: 0.957

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
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

History Filter Activity

6 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NFIX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfix has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NFIX were changed from SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NFIX were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NFIX was added gene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME