SLC27A3

solute carrier family 27 member 3
OMIM: 604193, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red SLC27A3 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related

Red SLC27A3 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.64

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related

    Red SLC27A3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related

    Red SLC27A3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related

    Red SLC27A3 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related

    Red SLC27A3 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.3

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related