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7 Possible Causes for Mutation in the TMEM126A Gene

  • Autosomal Recessive Optic Atrophy Type 7

    Genetics This is an autosomal recessive disorder resulting from a mutation in the TMEM126A gene (11q14.1-q21) encoding a mitochondrial protein.[disorders.eyes.arizona.edu] DgiDB (Drug Gene Interaction Database) TMEM126A DoCM (Curated mutations) TMEM126A (select the gene name) CIViC (Clinical Interpretations of Variants in Cancer) TMEM126A ([atlasgeneticsoncology.org] Gene Human Gene Mutation Database (HGMD) TMEM126A SNPedia medical, phenotypic, and genealogical associations of SNPs for TMEM126A SNP Genotyping and Copy Number Assay Products[genecards.org]

  • Oculopharyngodistal Myopathy

    OPA7 ( OMIM ) is caused by mutation in the TMEM126A gene ( OMIM ) on chromosome 11q14. OPA8 ( OMIM ) maps to chromosome 16q21-q22.[mendelian.co] OPA5 ( OMIM ) is caused by mutation in the DNM1L gene ( OMIM ) on chromosome 12p11. OPA6 ( OMIM ) maps to chromosome 8q.[mendelian.co] OPA9 ( OMIM ) is caused by mutation in the ACO2 gene ( OMIM ) on chromosome 22q13; OPA10 ( OMIM ) is caused by mutation in the RTN4IP1 gene ( OMIM ) on chromosome 6q21; and[mendelian.co]

  • Optic Atrophy

    The candidate target region contained the transmembrane protein 126A (TMEM126A) gene, and direct sequencing identified a previously described nonsense mutation (c.163C T;[ncbi.nlm.nih.gov] Direct sequencing of the complete coding sequence of TMEM126A revealed mutation p.Arg55X, homozygous in all affected siblings and heterozygous in both unaffected parents.[ncbi.nlm.nih.gov] We describe the first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy and Cataract

    Of the three nuclear genes known to cause optic neuropathy when mutated, mutations in OPA3 and TMEM126A are extremely rare.[molvis.org] , and the transmembrane protein 126A ( TMEM126A, OMIM 612988 ) gene [ 1 ].[molvis.org] Dominant optic atrophy (DOA, MIM 165500 ) is the most common form of hereditary optic neuropathy resulting from mutations in nuclear genome, with a prevalence of 1 in 50,000[molvis.org]

  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    OPA7 ( OMIM ) is caused by mutation in the TMEM126A gene ( OMIM ) on chromosome 11q14. OPA8 ( OMIM ) maps to chromosome 16q21-q22.[mendelian.co] OPA5 ( OMIM ) is caused by mutation in the DNM1L gene ( OMIM ) on chromosome 12p11. OPA6 ( OMIM ) maps to chromosome 8q.[mendelian.co] OPA9 ( OMIM ) is caused by mutation in the ACO2 gene ( OMIM ) on chromosome 22q13; OPA10 ( OMIM ) is caused by mutation in the RTN4IP1 gene ( OMIM ) on chromosome 6q21; and[mendelian.co]

  • Autosomal Recessive Progressive External Ophthalmoplegia

    OPA7 ( OMIM ) is caused by mutation in the TMEM126A gene ( OMIM ) on chromosome 11q14. OPA8 ( OMIM ) maps to chromosome 16q21-q22.[mendelian.co] OPA5 ( OMIM ) is caused by mutation in the DNM1L gene ( OMIM ) on chromosome 12p11. OPA6 ( OMIM ) maps to chromosome 8q.[mendelian.co] OPA9 ( OMIM ) is caused by mutation in the ACO2 gene ( OMIM ) on chromosome 22q13; OPA10 ( OMIM ) is caused by mutation in the RTN4IP1 gene ( OMIM ) on chromosome 6q21; and[mendelian.co]

  • Ataxia - Tapetoretinal Degeneration Syndrome

    OPA7 ( OMIM ) is caused by mutation in the TMEM126A gene ( OMIM ) on chromosome 11q14. OPA8 ( OMIM ) maps to chromosome 16q21-q22.[mendelian.co] OPA5 ( OMIM ) is caused by mutation in the DNM1L gene ( OMIM ) on chromosome 12p11. OPA6 ( OMIM ) maps to chromosome 8q.[mendelian.co] OPA9 ( OMIM ) is caused by mutation in the ACO2 gene ( OMIM ) on chromosome 22q13; OPA10 ( OMIM ) is caused by mutation in the RTN4IP1 gene ( OMIM ) on chromosome 6q21; and[mendelian.co]

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