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Prepair 1000+

Gene: POLA1

Amber List (moderate evidence)

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220 has only been reported in families with an intronic variant introducing a new exon (NM_001330360.2:c.1393-354A>G, MANE transcript). According to OMIM, the onset is in early childhood. Female carriers may have no manifestations or only skin pigmentation changes. However, males may die early from systemic disease.

Van Esch-O'Driscoll syndrome MIM#301030 is a rare cause of syndromic X-linked intellectual disability characterised by short stature, microcephaly, variable degree of intellectual disability, and hypogonadotropic hypogonadism. It has been reported in at least 5 families (PMID: 31006512). According to OMIM, carrier females are unaffected.

The recurrent intronic variant (chrX:24726579 GRCh38 or chrX:24744696 GRCh37) is well covered by the current WES in use for Prepair. In addition, both conditions have enough evidence for gene-disease association. Therefore, this gene can be made green now.
Created: 21 Jan 2025, 4:03 a.m. | Last Modified: 21 Jan 2025, 4:03 a.m.
Panel Version: 1.1257

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220; Van Esch-O'Driscoll syndrome MIM#301030

Publications

Details

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

History Filter Activity

23 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pola1 has been classified as Amber List (Moderate Evidence).

23 Jan 2025, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLA1 were set to

23 Jan 2025, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: POLA1.

1 Jun 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLA1 was added gene: POLA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030