FBRSL1
Homo sapiens
Gene Name: fibrosin like 1
Aliases:
Chromosome No: 12
Chromosome Band: 12q24.33
Genetic Category: Syndromic-Rare single gene variant
Aliases:
Chromosome No: 12
Chromosome Band: 12q24.33
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Ufartes et al., 2020 reported three individuals with truncating variants in the FBRSL1 gene presenting with a syndrome characterized by global developmental delay/intellectual disability, speech delay, autistic behavior, microcephaly, swallowing difficulties, postnatal growth retardation, skeletal abnormalities, respiratory failure, and dysmorphic features.
Molecular Function
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
DD, ID
Autistic behavior
