MAL

mal, T-cell differentiation protein
OMIM: 188860, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber MAL in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • developmental delay
    • nystagmus
    • progressive motor deterioration
    • dysmyelination
    Amber MAL in Adult onset leukodystrophy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • developmental delay
    • nystagmus
    • progressive motor deterioration
    • dysmyelination
    Amber MAL in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • developmental delay
    • nystagmus
    • progressive motor deterioration
    • dysmyelination
    Amber MAL in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • developmental delay
    • nystagmus
    • progressive motor deterioration
    • dysmyelination
    Amber MAL in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • developmental delay
    • nystagmus
    • progressive motor deterioration
    • dysmyelination