Human Gene Module / Chromosome 17 / GFAP

GFAPglial fibrillary acidic protein

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
2 / 0
Aliases
GFAP, ALXDRD
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
17q21.31
Associated Disorders
-
Relevance to Autism

Three de novo missense variants that were predicted to be possibly damaging (defined as 1 MPC 2) were identified in the GFAP gene in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified GFAP as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).

Molecular Function

This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Heterozygous mutations in this gene cause Alexander disease (OMIM 203450), a rare disorder of astrocytes in the central nervous system.

Reports related to GFAP (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.547C>T p.Arg183Cys missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.995A>G p.Glu332Gly missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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