LRRC8C

leucine rich repeat containing 8 VRAC subunit C
OMIM: 612889, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber LRRC8C in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TIMES syndrome MIM#621056

Amber LRRC8C in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TIMES syndrome MIM#621056

Amber LRRC8C in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • TIMES syndrome MIM#621056