Cerebral Palsy
Gene: NFIXEnsemblGeneIds (GRCh38): ENSG00000008441
EnsemblGeneIds (GRCh37): ENSG00000008441
OMIM: 164005, Gene2Phenotype
NFIX is in 10 panels
1 review
Luisa Weiss (University of Adelaide)
Two patients in a large CP cohort study, one with a nonsense mutation without information on inheritance and one with a de novo missense mutation predicted to be likely pathogenic. Normally, NFIX mutation cause accelerated bone maturation with overgrwowth, dysmorphism and mental retardation, so there is a low possibility for phenotypic overlap.
Sources: LiteratureCreated: 27 Jun 2023, 1:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Malan syndrome MIM#614753; Marshall-Smith syndrome MIM#602535
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Malan syndrome MIM#614753
- Marshall-Smith syndrome MIM#602535
- OMIM
- 164005
- Clinvar variants
- Variants in NFIX
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfix has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfix has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: NFIX was added gene: NFIX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIX were set to 34788679 Phenotypes for gene: NFIX were set to Malan syndrome MIM#614753; Marshall-Smith syndrome MIM#602535 Review for gene: NFIX was set to AMBER