The gene view histogram is a graphical view of mutations across IL1RAPL1. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.

This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability.

Dinopoulos A, Stefanou MI, Attilakos A, Tsirouda M, Papaevangelou V. A case of startle epilepsy associated with IL1RAPL1 gene deletion. IL1RAPL1 may also be deleted in families with a contiguous gene deletion syndrome that includes MR, adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. For patients with suspected XLMR 21, sequence analysis is recommended as the first step in mutation identification. 2021-03-28 · We originally identified the IL1RAPL1 gene through its partial deletion in a patient with Becker muscular dystrophy (BMD), glycerol kinase deficiency (GKD), adrenal hypoplasia congenita (AHC), and mild mental retardation, 1 and suggested that its disruption might account for the patient’s cognitive problems.

Il1rapl1 gene deletion

"-" indicates the variant described on genomic level does not affect the coding DNA reference sequence. Recombinant Human IL1RAPL1 Protein (Met1-Leu354) 10177-H08H with a fusion His Tag, is expressed in HEK293 Cells. With high purity, high biological activity, high stability, and other superior features, you can use this Human IL1RAPL1 protein for relevant bioassay and related research. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.

The coexistence of startle epilepsy and IL1RAPL1 gene deletion in this child may not be coincidental and suggests a possible involvement of IL1RAPL1 in the dysregulation of excitatory synapses and the pathogenesis of startle epilepsy.

IL1RAPL1 (interleukin‐1 receptor accessory protein‐like 1) located at Xp21.3‐22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX‐1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). It is selectively expressed in the brain and plays a crucial role in cognitive development.11, 12 The IL1RAPL1 gene is located on Xp21.2-p21.3, a deletion and/or mutation-prone region. 13 Mutations of this gene have been associated with cognitive impairments ranging from nonsyndromic X-linked mental retardation to autistic spectrum disorders.

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature. American Journal of Medical Genetics Part A, 2011. Oliver Bartsch. Anne Behnecke.

In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation. 2021-04-07 · The coexistence of startle epilepsy and IL1RAPL1 gene deletion in this child may not be coincidental and suggests a possible involvement of IL1RAPL1 in the dysregulation of excitatory synapses and the pathogenesis of startle epilepsy. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. Deletions and mutations in this gene were found in patients with intellectual disability. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities, and plays a role in synapse formation and stabilization. Summaries for IL1RAPL1 gene (According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL) About This Sec Entrez Gene Summary for IL1RAPL2 Gene The protein encoded by this gene is a member of the interleukin 1 receptor family.

We report a new family with XLID due to partial deletion of IL1RAPL1, summarize reported literature and describe similar phenotypic similarities among the affected individuals in this family and those reported in the literature proposing that deletion of IL1RAPL1 may cause syndromic XLID. 135 An Italian patient with ID, ASD, and an epilepsy episode has a 285-kb deletion in chromosome Xp21.3e21.2, with breakpoints lying in IL1RAPL1 gene exon 3. 136 An inversion in chromosome X has deletion in IL1RAPL1 gene in three brothers with ASD and/ or MR. All together, these results indicate that disruption of IL1RAPL1 has the potential of causing a wide spectrum of conditions ranging from MR to high-functioning autism. RESULTS Sequencing of the IL1RAPL1 gene and identiﬁcation of de novo frameshift mutation in one as girl IL1RAPL1 (interleukin‐1 receptor accessory protein‐like 1) located at Xp21.3‐22.1 has repeatedly been shown to be deleted in patients with a contiguous gene syndrome also affecting neighboring genes, in particular DMD (dystrophin), DAX‐1 (NR0B1, nuclear receptor subfamily 0, group B, member 1), and GK (glycerol kinase). The gene view histogram is a graphical view of mutations across IL1RAPL1. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.
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CHRU de Aug 3, 2011 The autism variants include a de novo mutation — meaning it arises spontaneously rather than being inherited — in IL1RAPL1, a gene Dec 18, 2018 However, some genes on the inactive X chromosome and outside the (2008) Novel mutation of IL1RAPL1 gene in a nonspecific X-linked Apr 30, 2017 found deletion mutations in IL1RAPL1 and. NR0B1 genes on X chromosome, at a molecu- lar weight of 1.52 Mbp (the deletion interval.
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Reports Added [Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.2007] [Mutations in the calcium-related gene IL1RAPL1 are associated with autism.2008] [Functional impact of global rare copy number variation in autism spectrum disorders.2010] [Direct measure of the de novo mutation rate in autism and

Different nonoverlapping deletions involving IL1RAPL1 have been reported previously, suggesting that this region could be deletion-prone. In this report, we present the results of the molecular analyses and clinical Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli. IL1RAPL1 gene product. IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2.

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Kromosom 1p36 deletionssyndrom (1p36); 11q partiellt monosomisyndrom (JBS) (17q12); Gen: HOXD13 (2q31.1); Gen: IGF2 (11p15, 5); Gen: IL1RAPL1 (Xp21.3-21.2) Genetik Hemreferens; Genetic Alliance; MalaCards; MedlinePlus.

[provided by … Subsequent mutation analysis of genes located in this interval allowed us to identify a partial deletion of the IL1RAPL1 gene. Different nonoverlapping deletions involving IL1RAPL1 have been reported previously, suggesting that this region could be deletion-prone. In this report, we present the results of the molecular analyses and clinical Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli. IL1RAPL1 gene product. IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2.

Apr 30, 2017 found deletion mutations in IL1RAPL1 and. NR0B1 genes on X chromosome, at a molecu- lar weight of 1.52 Mbp (the deletion interval.

• This deletion-inversion-deletion results in a chimeric 2003-02-01 2014-08-01 It is selectively expressed in the brain and plays a crucial role in cognitive development11,12.

IL1RAPL1 gene product. IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2. The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. Deletions and mutations in this gene were found in patients with intellectual disability. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.