LRRC8C:Ensemblv90

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber LRRC8C in Mendeliome


Version 1.3802

1 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 1.508

1 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
  • 1 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 2.0

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