RECQL:Ensemblv90

RecQ like helicase
OMIM: 600537, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 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 TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA

Amber RECQL in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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