Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Intellectual disability v8.72 NFIB Achchuthan Shanmugasundram Classified gene: NFIB as Amber List (moderate evidence)
Intellectual disability v8.72 NFIB Achchuthan Shanmugasundram Added comment: Comment on list classification: The patients reported in PMID:30388402 presented with borderline-mild intellectual disability. The severity of ID/ GDD was not reported for the single patient with NFIB variant from PMID:39567597. Hence, the rating should still remain amber with current evidence.
Intellectual disability v8.72 NFIB Achchuthan Shanmugasundram Gene: nfib has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.71 NFIB Achchuthan Shanmugasundram changed review comment from: Comment on publications: PMID:9567597 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.; to: Comment on publications: PMID:39567597 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.71 NFIB Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:9567597 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.71 NFIB Achchuthan Shanmugasundram Publications for gene: NFIB were set to 30388402; 39567597
Intellectual disability v8.70 NFIB Achchuthan Shanmugasundram Phenotypes for gene: NFIB were changed from Global developmental delay; Intellectual disability; Macrocephaly; Macrocephaly, acquired, with impaired intellectual development, 618286 to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Intellectual disability v8.69 NFIB Achchuthan Shanmugasundram Publications for gene: NFIB were set to 30388402
Intellectual disability v8.68 NFIB Achchuthan Shanmugasundram Mode of inheritance for gene: NFIB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.67 NFIB Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: AMBER; Mode of pathogenicity: None; Publications: 39567597; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.786 NFIB Ivone Leong Classified gene: NFIB as Amber List (moderate evidence)
Intellectual disability 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 v2.786 NFIB Ivone Leong Gene: nfib has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.785 NFIB Ivone Leong Tag watchlist tag was added to gene: NFIB.
Tag Autism Spectrum Disorder tag was added to gene: NFIB.
Intellectual disability v2.777 NFIB Ivone Leong Classified gene: NFIB as No list
Intellectual disability v2.777 NFIB Ivone Leong Gene: nfib has been removed from the panel.
Intellectual disability v2.776 NFIB Ivone Leong Deleted their review
Intellectual disability v2.776 NFIB Ivone Leong Deleted their comment
Intellectual disability v2.694 NFIB Ivone Leong Classified gene: NFIB as Green List (high evidence)
Intellectual disability 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 v2.694 NFIB Ivone Leong Gene: nfib has been classified as Green List (High Evidence).
Intellectual disability 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 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