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DDG2P

Gene: NFIB

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual disability with macrocephaly' exists in DD-G2P as a separate entry.
Created: 19 Apr 2019, 3:14 p.m.
New gene:disorder association added to DDG2P on 08/11/2018: Intellectual disability with macrocephaly. Original DDG2P rating for Intellectual disability with macrocephaly: probable. Mode of inheritance: monoallelic. Mode of pathogenicity: loss of function.
Created: 27 Nov 2018, 10:20 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Intellectual disability with macrocephaly
  • Intellectual Disability and Macrocephaly
OMIM
600728
Clinvar variants
Variants in NFIB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NFIB were changed from Intellectual disability with macrocephaly to Intellectual disability with macrocephaly; Intellectual Disability and Macrocephaly

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

27 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: NFIB was added gene: NFIB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber 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 Intellectual disability with macrocephaly