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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

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