SLC44A1

solute carrier family 44 member 1
OMIM: 606105, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC44A1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868
    • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
    Green SLC44A1 in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.21
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868
    • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
    Red SLC44A1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy