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Fetal anomalies

Gene: NFIB

Green List (high evidence)
NFIB (nuclear factor I B)
EnsemblGeneIds (GRCh38): ENSG00000147862
EnsemblGeneIds (GRCh37): ENSG00000147862
OMIM: 600728, Gene2Phenotype
NFIB is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

PMID:30388402 NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly - 18 patients including structural brain anomalies including corpus callosum dysgenesis ;PMID33130023 - two patients with pathogenic variants in NFIB. 6-year-old with developmental delays, mild hypotonia, facial anomalies, and brain magnetic resonance imaging findings comprising mild thinning of the corpus callosum, with more marked thinning of the splenium and blunting of the rostrum and cavum septum pellucidum. Exome sequencing identified a de novo nonsense variant in NFIB. The second is a 5-year-old with developmental delays, hypotonia, dysmorphic features, a preauricular tag and pit, a small ventricular septal defect, and brain magnetic resonance imaging findings including a dysmorphic corpus callosum and a small posterior fossa. PMID:35433561 A de novo Non-sense Nuclear Factor I B Mutation (p.Tyr290*) Is Responsible for Brain Malformation and Lung Lobulation Defects. Green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrocephaly, acquired, with impaired intellectual development, OMIM:618286

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
OMIM
600728
Clinvar variants
Variants in NFIB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: NFIB. Tag Q3_24_NHS_review was removed from gene: NFIB.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NFIB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: NFIB. Tag Q3_24_NHS_review tag was added to gene: NFIB.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NFIB was added gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIB were set to 30388402; 32902921; 33130023 Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286