POLA1

DNA polymerase alpha 1, catalytic subunit
OMIM: 312040
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
VAN ESCH-O'DRISCOLL SYNDROME 301030
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220, XLPDR, X-Linked Intellectual Disability associated with short stature, microcephaly, and hypogonadism
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hyperpigmentation, characteristic facies, lung and GI involvement, Autoinflammatory Disorders, Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220, X-linked reticulate pigmentary disorder, x-linked cutaneous amyloidosis with systemic features