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Intellectual disability syndromic and non-syndromic

Gene: POLA1

Green List (high evidence)

POLA1 (DNA polymerase alpha 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000101868
EnsemblGeneIds (GRCh37): ENSG00000101868
OMIM: 312040, Gene2Phenotype
POLA1 is in 7 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Five unrelated families reported
Sources: Literature
Created: 17 Jan 2020, 2:19 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Van Esch-O'Driscoll syndrome OMIM# 301030

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
312040
Clinvar variants
Variants in POLA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: pola1 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: pola1 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

gene: POLA1 was added gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: POLA1 were set to PMID: 31006512 Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030 Review for gene: POLA1 was set to GREEN gene: POLA1 was marked as current diagnostic