1. Genes and Genomic Entities
  2. LRRC8C

LRRC8C

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber LRRC8C in Optic neuropathy


Level 2: Ophthalmology
Version 6.47
Latest signed off version: v6.46 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TIMES syndrome, OMIM:621056
Amber LRRC8C in Severe microcephaly


Level 2: Neurology
Version 9.17
Latest signed off version: v9.13 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TIMES syndrome, OMIM:621056
Amber LRRC8C in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.3
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • TIMES syndrome, OMIM:621056
    Amber LRRC8C in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • TIMES syndrome
    Amber LRRC8C in Intellectual disability


    Level 2: Developmental disorders
    Version 11.7
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • TIMES syndrome, OMIM:621056
    Amber LRRC8C in Monogenic short stature


    Level 2: Endocrinology
    Version 2.9
    Latest signed off version: v2.8 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • TIMES syndrome, OMIM:621056