POLA1

DNA polymerase alpha 1, catalytic subunit
OMIM: 312040, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber POLA1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Van Esch-O'Driscoll syndrome, MIM#301030

Green POLA1 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
  • Van Esch-O'Driscoll syndrome OMIM# 301030
Tags
  • deep intronic

Green POLA1 in Systemic Autoinflammatory Disease_Periodic Fever


Level 2: Immunological disorders
Version 1.47

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
    Tags
    • deep intronic

    Green POLA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Van Esch-O'Driscoll syndrome OMIM# 301030

    Amber POLA1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220
    • Van Esch-O'Driscoll syndrome, MIM #301030

    Amber POLA1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Mackenzie's Mission
    • Expert Review Amber
    Phenotypes
    • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220
    • Van Esch-O'Driscoll syndrome, MIM #301030