TMEM126A

transmembrane protein 126A
OMIM: 612988, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red TMEM126A in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green TMEM126A in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.50
Latest signed off version: v2.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Optic Atrophy, Recessive
  • Optic atrophy 7, 612989
Tags
  • founder-effect

Red TMEM126A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Optic atrophy 7 612989

Red TMEM126A in Inborn errors of metabolism


Version 2.187
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    Phenotypes
    • Optic atrophy 7 612989

    Red TMEM126A in Possible mitochondrial disorder - nuclear genes


    Version 1.53
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Optic atrophy 7, 612989

    Red TMEM126A in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.54
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Optic atrophy-7, 612989

    Red TMEM126A in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.222
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Optic Atrophy, Recessive
    • Eye Disorders

    Red TMEM126A in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Optic atrophy, 612989
    • Eye Disorders