POLA1

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber POLA1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 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 1.3512	1 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 Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes X-linked reticulate pigmentary disorder MONDO:0010523
Green POLA1 in Autoinflammatory Disorders Level 2: Immunological disorders Version 2.28 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.410	1 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 0.110	1 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
Green POLA1 in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220 Van Esch-O'Driscoll syndrome, MIM #301030