Genomics England
GMS Panels
Panels
Genes and Entities

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 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
VAN ESCH-O'DRISCOLL SYNDROME 301030
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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