AutismKB

Evidence Detail for NF1


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Basic Information Top
Gene Symbol:NF1 ( DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS )
Gene Full Name: neurofibromin 1
Band: 17q11.2
Quick LinksEntrez ID:4763; OMIM: 613113; Uniprot ID:NF1_HUMAN; ENSEMBL ID: ENSG00000196712
Sequences Top
>NF1|4763|nucleotide
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>NF1|4763|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 2 (6) 2 (6) 1 (1) 15 (18)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMNeurofibromatosis, type 1 (162200)
DescriptionNeurofibromatosis type 1. The frequency of neurofibromatosis among patients with ASD is ~0.5%; the frequency of ASD in subjects with neurofibromatosis is 4% (3/74)
Reference(s)9394941; 16980810; 17996402; 9932243;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 5
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Mbarek, 1999_1 France 3 (detail) 85
(35.29%)
ASD -
(4-38)
- 90
(-)
-
-
Plank, 2001_1 USA 1 (detail) 133
(23.31%)
ASD -
-
- 134
(23.88%)
-
-
Cheung, 2001_1 AGRE 2 (detail) 90
(-)
ASD -
-
- 96
(-)
-
-
ASIAN
Marui, 2004_1 Japan 3 (detail) 74
(16.22%)
ASD 25
(9-43)
- 122
(58.20%)
48.3
(21-65)
AFRICAN
Plank, 2001_2 USA 1 (detail) 65
(15.38%)
ASD -
-
- 66
(18.18%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000008 17q11.2 17 D17S1294 2.85 - - McCauley, 2005
AutLD0000016 17q11.2 17 D17S1800 2.83 - - Yonan, 2003
AutLD0000039 17q11.2 17 HTTINT2 2.34 - - Monaco, 2001
AutLD0000108 17q11.2 17 D17S1294 - 2.39 - Ylisaukko-oja, 2006
AutLD0000118 17q11.2 17 - - 2.1 - Spence, 2006
AutLD0000148 17q11.2 17 D17S1800 5.82 4.88 0.000000159 Sutcliffe, 2005

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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