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 6.1
Latest signed off version: v6.0 (6 May 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 9.3
Latest signed off version: v9.0 (6 May 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 9.9
Latest signed off version: v9.0 (6 May 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 7.7
    Latest signed off version: v7.0 (6 May 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 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 2.1
    Latest signed off version: v2.0 (6 May 2026)

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