Cerebral Palsy
Gene: NFIBEnsemblGeneIds (GRCh38): ENSG00000147862
EnsemblGeneIds (GRCh37): ENSG00000147862
OMIM: 600728, Gene2Phenotype
NFIB is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 27 May 2024, noon
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Macrocephaly, acquired, with impaired intellectual development, MIM#618286
- OMIM
- 600728
- Clinvar variants
- Variants in NFIB
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfib has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nfib has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: NFIB was added gene: NFIB was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIB were set to PMID: 38693247 Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Review for gene: NFIB was set to RED