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| Intellectual disability - microarray and sequencing v2.786 | NFIB | Ivone Leong Classified gene: NFIB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.786 | NFIB | Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, it was decided to give NFIB an amber gene rating. Although ID was reported the severity is mild-moderate and on this basis, not considered appropriate for green status on the ID panel. NFIB is associated with a phenotype in OMIM and is probably associated with a phenotype on Gene2Phenotypes. The "Autism Spectrum Disorder" and "watchlist" tags have also been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.786 | NFIB | Ivone Leong Gene: nfib has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.785 | NFIB |
Ivone Leong Tag watchlist tag was added to gene: NFIB. Tag Autism Spectrum Disorder tag was added to gene: NFIB. |
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| Intellectual disability - microarray and sequencing v2.777 | NFIB | Ivone Leong Classified gene: NFIB as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.777 | NFIB | Ivone Leong Gene: nfib has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.776 | NFIB | Ivone Leong Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.776 | NFIB | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.694 | NFIB | Ivone Leong Classified gene: NFIB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.694 | NFIB | Ivone Leong Added comment: Comment on list classification: NFIB has been given a green gene status based on the evidence provided by Konstantinos Varvagiannis. NFIB is associated with phenotypes in OMIM and Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.694 | NFIB | Ivone Leong Gene: nfib has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.690 | NFIB | Ivone Leong Phenotypes for gene: NFIB were changed from Global developmental delay; Intellectual disability; Macrocephaly to Global developmental delay; Intellectual disability; Macrocephaly; Macrocephaly, acquired, with impaired intellectual development, 618286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.531 | NFIB |
Konstantinos Varvagiannis gene: NFIB was added gene: NFIB was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIB were set to 30388402 Phenotypes for gene: NFIB were set to Global developmental delay; Intellectual disability; Macrocephaly Penetrance for gene: NFIB were set to unknown Review for gene: NFIB was set to GREEN Added comment: Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency. 10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described. Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID. Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex. While most of the variants occurred as de novo events, a few individuals had inherited a variant (deletion or nucleotide variant) from a similarly affected parent. As a result, this gene can be considered for inclusion in the ID panel as green. Sources: Expert Review, Literature |
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