FBRSL1fibrosin like 1
Autism Reports / Total Reports
2 / 3Rare 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
External Links
SFARI Genomic Platforms
Reports related to FBRSL1 (3 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 | - |
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.219G>A | p.Glu73%3D | stop_gained | Unknown | Not maternal | - | 32424618 | Ufartes R et al. (2020) | |
c.1670G>A | p.Arg557Gln | missense_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
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]