FBRSL1fibrosin like 1
Autism Reports / Total Reports
2 / 4Rare Variants / Common Variants
5 / 0Aliases
-Associated Syndromes
-Chromosome Band
12q24.33Associated Disorders
ASDRelevance 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
SFARI Genomic Platforms
Reports related to FBRSL1 (4 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome | Ufartes R et al. (2020) | No | Autistic behavior |
| 2 | Support | - | Zhou X et al. (2022) | Yes | - |
| 3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
| 4 | Support | - | Gina Kastens et al. (2025) | No | Autistic behavior |
Rare Variants (5)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.487C>T | p.Gln163Ter | stop_gained | De novo | - | - | 32424618 | Ufartes R et al. (2020) | |
| c.1670G>A | p.Arg557Gln | missense_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
| c.332G>A | p.Trp111Ter | stop_gained | Unknown | Not maternal | - | 32424618 | Ufartes R et al. (2020) | |
| c.581_603del | p.Ser194LysfsTer6 | frameshift_variant | De novo | - | - | 32424618 | Ufartes R et al. (2020) | |
| c.1681dup | p.Ala561GlyfsTer3 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Syndromic

Score Delta: Score remained at S
criteria met
See SFARI Gene'scoring criteriaThe syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."
Krishnan Probability Score
Score 0.44765821412136
Ranking 12088/25841 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94174642248295
Ranking 15047/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.058738784389628
Ranking 10743/20870 scored genes
[Show Scoring Methodology]