Cerebral Palsy
Gene: NEFL
NEFL (neurofilament light)
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: LiteratureCreated: 27 May 2024, 11:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882
- OMIM
- 162280
- Clinvar variants
- Variants in NEFL
- Penetrance
- None
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nefl has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nefl has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: NEFL was added gene: NEFL was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882 Review for gene: NEFL was set to RED