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 Neurofibromatosis Type 1 Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.32	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 XLPDR Tags non-coding-known-pathogenic
Green POLA1 in COVID-19 research Level 2: Viral research Version 1.141	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 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
Green POLA1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 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
Green POLA1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes VAN ESCH-O'DRISCOLL SYNDROME 301030
Red POLA1 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.108 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature
Green POLA1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 XLPDR X-Linked Intellectual Disability associated with short stature, microcephaly, and hypogonadism
Green POLA1 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Van Esch-O'Driscoll syndrome, 301030 Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220