RECQL

RecQ like helicase
OMIM: 600537, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RECQL in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Photosensitivity
  • facial dysmorphism
  • xeropthalmia
  • skeletal abnormalities

Amber RECQL in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Photosensitivity
  • facial dysmorphism
  • xeropthalmia
  • skeletal abnormalities

Red RECQL in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA