Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: LRRC8C

Amber List (moderate evidence)

LRRC8C (leucine rich repeat containing 8 VRAC subunit C)
EnsemblGeneIds (GRCh38): ENSG00000171488
EnsemblGeneIds (GRCh37): ENSG00000171488
OMIM: 612889, Gene2Phenotype
LRRC8C is in 3 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Supporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification.
Sources: Literature
Created: 8 Jan 2025, 6:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
TIMES syndrome MIM#621056

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • TIMES syndrome MIM#621056
OMIM
612889
Clinvar variants
Variants in LRRC8C
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

15 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc8c has been classified as Amber List (Moderate Evidence).

15 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrrc8c has been classified as Amber List (Moderate Evidence).

8 Jan 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Sangavi Sivagnanasundram (Melbourne Health)

gene: LRRC8C was added gene: LRRC8C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRRC8C were set to 39623139 Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056 Mode of pathogenicity for gene: LRRC8C was set to Other Review for gene: LRRC8C was set to AMBER