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Intellectual disability

Gene: NFASC

Green List (high evidence)

NFASC (neurofascin)
EnsemblGeneIds (GRCh38): ENSG00000163531
EnsemblGeneIds (GRCh37): ENSG00000163531
OMIM: 609145, Gene2Phenotype
NFASC is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in unrelated cases.
Created: 12 Aug 2019, 10:36 a.m. | Last Modified: 12 Aug 2019, 10:36 a.m.
Panel Version: 2.998
Sources: Literature
Created: 12 Aug 2019, 10:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with central and peripheral motor dysfunction 618356

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with central and peripheral motor dysfunction 618356
OMIM
609145
Clinvar variants
Variants in NFASC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NFASC were set to 28940097; 30124836; 30850329

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: NFASC was added gene: NFASC was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to 28940097; 30124836; 30850329 Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 Review for gene: NFASC was set to GREEN