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  2. Craniosynostosis
  3. NFIX
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Craniosynostosis

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

1 review

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 33288889 reports a patient with an NFIX variant (c.143 T > A, p.Met48Lys) who presented craniosynostosis.
PMID 35997807: Of 25 patients with lambdoid craniosynostosis, 4 unrelated patients carried NFIX variants. The patient with the c.143 T > A (p.Met48Lys) variant of the NFIX gene has been reported by PMID 33288889.
Sources: Expert Review
Created: 16 May 2023, 1:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malan syndrome, MIM# 614753

Publications

Created: 16 May 2023, 1:43 a.m.

Panel version: 1.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Malan syndrome, MIM# 614753
OMIM
164005
Clinvar variants
Variants in NFIX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2023, 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).

16 May 2023, 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).

16 May 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: NFIX was added gene: NFIX was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIX were set to 33288889; 35997807 Phenotypes for gene: NFIX were set to Malan syndrome, MIM# 614753 Review for gene: NFIX was set to GREEN