Autoinflammatory Disorders
Gene: POLA1EnsemblGeneIds (GRCh38): ENSG00000101868
EnsemblGeneIds (GRCh37): ENSG00000101868
OMIM: 312040, Gene2Phenotype
POLA1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
12 unrelated families with same g.24744696A-G transition (NC_000023.10, g.24744696A-G) in intron 13 of the POLA1 gene, resulting the introduction of a novel exon (exon 13a) into the transcript. Two of the families shared the same haplotype, indicative of founder effect but rest thought to have arisen independently, including at least one de novo variant.
Sources: Expert listCreated: 5 Apr 2020, 9:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 312040
- Clinvar variants
- Variants in POLA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag deep intronic tag was added to gene: POLA1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pola1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pola1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POLA1 was added gene: POLA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 27019227 Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220 Review for gene: POLA1 was set to GREEN