ASPH

aspartate beta-hydroxylase
OMIM: 600582, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ASPH in Thoracic aortic aneurysm or dissection (GMS)


Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Traboulsi syndrome, OMIM:601552
  • facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106
Amber ASPH in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Traboulsi syndrome, OMIM:601552
Green ASPH in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
    Red ASPH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green ASPH in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Traboulsi syndrome, OMIM:601552