Human Gene Module / Chromosome 8 / NEFL

NEFLNeurofilament, light polypeptide

Score
5
Hypothesized Criteria 5.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
0 / 1
Aliases
NEFL, CMT1F,  CMT2E,  NF-L,  NF68,  NFL
Associated Syndromes
-
Genetic Category
Genetic Association
Chromosome Band
8p21.2
Associated Disorders
-
Relevance to Autism

NEFL showed consistently reduced expression in three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients. NEFL also showed genetic association with autism in Caucasian families (P=0.038; Z-score 2.066) (Anitha et al., 2012).

Molecular Function

Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] and Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684].

Reports related to NEFL (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Brain region-specific altered expression and association of mitochondria-related genes in autism. Anitha A , et al. (2012) Yes -
Rare Variants  

No rare variants reported.

Common Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type Author, Year
c.*1256G>A - 3_prime_UTR_variant - - - Anitha A , et al. (2012)
SFARI Gene score
5

Hypothesized

NEFL showed consistently reduced expression in three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients and also showed genetic association with autism in Caucasian families (P=0.038; Z-score 2.066) in PMID 23116158.

5

Hypothesized

See all Category 5 Genes

Category 5.1 includes genes for which the only evidence comes from studies of model organisms, without statistical or genetic support in human studies.

01-01-2017
5

Initial score established: 5

Description

NEFL showed consistently reduced expression in three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients and also showed genetic association with autism in Caucasian families (P=0.038; Z-score 2.066) in PMID 23116158.

Reports Added
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