POLA2

DNA polymerase alpha 2, accessory subunit
OMIM: 620063, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green POLA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137

Green POLA2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137

Green POLA2 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137

Green POLA2 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137

Green POLA2 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137