Hereditary neuropathy or pain disorder
Gene: NFASCEnsemblGeneIds (GRCh38): ENSG00000163531
EnsemblGeneIds (GRCh37): ENSG00000163531
OMIM: 609145, Gene2Phenotype
NFASC is in 5 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are at least three unrelated cases with syndromic neuropathy. Hence, this gene can be recommended for promotion to green rating in the next GMS update.Created: 4 Nov 2024, 2:07 p.m. | Last Modified: 4 Nov 2024, 2:07 p.m.
Panel Version: 6.55
PMID:30850329 reported the identification of a homozygous NFASC variant (p.Val1122Glu) in two siblings from an Italian family. The patients presented with early-onset cerebellar ataxia and demyelinating neuropathy.
PMID:31501903 reported the identification of one frameshift and four different homozygous non-synonymous variants in NFASC gene in ten individuals from six unrelated families. They presented with a neurodevelopmental disorder characterised with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement. Neuropathy was reported in at least three patients from two different families.
This gene has been associated with relevant phenotype in OMIM (MIM #618356), which lists demyelinating sensorimotor polyneuropathy as one of the clinical manifestations observed in some of the patients.Created: 4 Nov 2024, 2:05 p.m. | Last Modified: 4 Nov 2024, 2:05 p.m.
Panel Version: 6.52
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
- OMIM
- 609145
- Clinvar variants
- Variants in NFASC
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: NFASC. Tag Q3_24_NHS_review was removed from gene: NFASC.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to NFASC. Source Expert Review Green was added to NFASC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: nfasc has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: NFASC were changed from Developmental delay; peripheral neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: NFASC were set to 30850329: 30124836
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: NFASC. Tag Q3_24_NHS_review tag was added to gene: NFASC.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: NFASC was added gene: NFASC was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to 30850329: 30124836 Phenotypes for gene: NFASC were set to Developmental delay; peripheral neuropathy Penetrance for gene: NFASC were set to Complete Review for gene: NFASC was set to GREEN