1. Genes and Genomic Entities
  2. ABHD16A

ABHD16A

abhydrolase domain containing 16A
OMIM: 142620, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ABHD16A in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.18
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spastic paraplegia
    • Intellectual disability
    Green ABHD16A in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia
    • Intellectual disability
    Green ABHD16A in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.39
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia
    • Intellectual disability
    Amber ABHD16A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Spastic paraplegia 86, autosomal recessive, OMIM:619735
    Green ABHD16A in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
    Green ABHD16A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia
    • Intellectual disability