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15 Possible Causes for MYO16, gene

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  • Ring Chromosome 13

    The MCF2L and UPF3A genes are among those genes that may explain the autistic features in our case.[ncbi.nlm.nih.gov] In our patients the deletion included the gene EFNB2, GJB6, ARHGEF and MYO16 are probably involved respectively in genital development, hearing loss, microcephaly and growth[ashg.org] Although there was no evidence for disruption of the Rb gene, this chromosome rearrangement most likely results in abnormal expression of the Rb gene product.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    Genes on chromosome 16 are responsible for alpha subunits, while genes on chromosome 11 control the production of beta subunits.[who.int] […] journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60 Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16[genecards.org] ] 89,171,853( ) TCCTC(C/G)TCCTC reference, missense rs147301479 Likely benign 89,183,577( ) GGAGG(A/G)TCCAC reference, synonymous-codon Relevant External Links for CDH15 Gene[genecards.org]

  • CAPOS Syndrome

    (WES based NGS panel for 54 genes)[cgcgenetics.com] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] […] research identified two other unrelated families with CAPOS and showed that in all cases the disease is caused by an identical heterozygous missense mutation in the ATP1A3 gene[rareconnect.org]

  • Cerebellar Ataxia - Mental Retardation - Dysequilibrium Syndrome

    Back to results Cerebellar ataxia, mental retardation and dysequilibrium syndrome 4 (sequence analysis of ATP8A2 gene) ATP8A2 Request Now Methodology NGS Specimen Requirements[cgcgenetics.com] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • X-linked myotubular myopathy-abnormal genitalia syndrome

    Our findings confirm the existence of this novel contiguous gene syndrome and support that the deletion of the F18 gene, or a neighboring gene, may cause ambiguous genitalia[karger.com] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] Genes may be listed multiple times in cases where the gene causes many distinct clinical phenotypes.[cegat.de]

  • Distal Myopathy Type Tateyama

    Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene[rcpa.edu.au] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] Aliases for CAV3 Gene Caveolin 3 2 3 5 M-Caveolin 2 3 4 Caveolin-3 3 Cavolin 3 3 LGMD1C 3 VIP-21 3 VIP21 3 LQT9 3 External Ids for CAV3 Gene Previous GeneCards Identifiers[genecards.org]

  • Neurogenic Scapuloperoneal Syndrome Type Kaeser

    Genes may be listed multiple times in cases where the gene causes many distinct clinical phenotypes.[cegat.de] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] (variants in 2 different genes).[mayomedicallaboratories.com]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Genes and mapped phenotypes Gene ID: 100379201, updated on 8-Apr-2017 Summary Gene symbol SPAX3 Gene description Ataxia, spastic, 3, autosomal recessive Primary source MIM[ncbi.nlm.nih.gov] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] The gene codes for a mitochondrial protein.[ashg.org]

  • Congenital Lethal Myopathy Type Compton-North

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] […] at Omim Genes at Clinical Genomics Database Genes at HGMD[mendelmd.org]

  • X-Linked Intellectual Disability - Spastic Quadriparesis Syndrome

    3, yeast)-like 2 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) AFG3 ATPase family gene 3-like 2 (yeast) AFG3 ATPase family member 3-like 2 (S. cerevisiae) AFG3-like AAA[ukgtn.nhs.uk] […] and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity disorder Autism spectrum disorder Autism spectrum disorder, MYO16[qlinics.com] […] metabolism (pharmacogenetics) Pharmacogenetics Asthma treatment (pharmacogenetics) Pharmacogenetics Coumarin resistance (Pharmacogenetics) Pharmacogenetics Cytochrome p450 genes[genomediagnosticsnijmegen.nl]

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