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  2. Macrocephaly_Megalencephaly
  3. NFIB
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Macrocephaly_Megalencephaly

Gene: NFIB

Green List (high evidence)
NFIB (nuclear factor I B)
EnsemblGeneIds (GRCh38): ENSG00000147862
EnsemblGeneIds (GRCh37): ENSG00000147862
OMIM: 600728, Gene2Phenotype
NFIB is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs.
Created: 4 Oct 2021, 12:56 a.m. | Last Modified: 4 Oct 2021, 12:56 a.m.
Panel Version: 0.85

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrocephaly, acquired, with impaired intellectual development, MIM#618286

Publications

Created: 4 Oct 2021, 12:56 a.m.
Last Modified: 4 Oct 2021, 12:56 a.m.
Panel version: 0.85

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Tags
SV/CNV
OMIM
600728
Clinvar variants
Variants in NFIB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: NFIB.

4 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfib has been classified as Green List (High Evidence).

4 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NFIB were changed from to Macrocephaly, acquired, with impaired intellectual development, MIM#618286

4 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NFIB were set to

4 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NFIB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NFIB was added gene: NFIB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NFIB was set to Unknown