Research panel - Severe Paediatric Disorders
Gene: NFASC

NFASC (neurofascin)
EnsemblGeneIds (GRCh38): ENSG00000163531
EnsemblGeneIds (GRCh37): ENSG00000163531
OMIM: 609145, Gene2Phenotype
NFASC is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NFASC; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269

OMIM

609145

Clinvar variants

Variants in NFASC

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

4 Apr 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NFASC were changed from Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269

20 Feb 2020, Gel status: 3