SLC44A1

solute carrier family 44 member 1
OMIM: 606105, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC44A1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • progressive ataxia
  • tremor
  • cognitive decline
  • dysphagia
  • optic atrophy
  • dysarthria

Green SLC44A1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.32

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Childhood onset degeneration
    • progressive ataxia
    • tremor
    • cognitive decline
    • dysphagia
    • optic atrophy
    • dysarthria

    Green SLC44A1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Childhood-onset neurodegeneration
    • progressive ataxia
    • tremor
    • cognitive decline
    • dysphagia
    • optic atrophy
    • dysarthria

    Red SLC44A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • progressive ataxia
    • tremor
    • cognitive decline
    • dysphagia
    • optic atrophy
    • dysarthria

    Green SLC44A1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Childhood-onset neurodegeneration
    • progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria