RECQL

RecQ like helicase
OMIM: 600537, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RECQL in Mendeliome


Version 1.3802

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • RECON progeroid syndrome MONDO:0957266

Amber RECQL in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • RECON progeroid syndrome MONDO:0957266

Red RECQL in Breast Cancer


Level 2: Cancer Predisposition
Version 1.18

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Hereditary breast carcinoma, MONDO:0016419
Tags
  • disputed