1. Panels
  2. Disorders of immune dysregulation
  3. LACC1
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

Gene: LACC1

Green List (high evidence)
LACC1 (laccase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000179630
EnsemblGeneIds (GRCh37): ENSG00000179630
OMIM: 613409, Gene2Phenotype
LACC1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: IUIS IEI classifies LACC1-deficiency as a disease of immune dysregulation
Created: 16 Nov 2024, 3:33 a.m. | Last Modified: 16 Nov 2024, 3:33 a.m.
Panel Version: 0.212
At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported. At least 10 of the families had systemic disease, which all demonstrated increased inflammatory markers.
Sources: Literature
Created: 6 Dec 2021, 5:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Juvenile arthritis MIM#618795

Publications

Created: 6 Dec 2021, 5:46 a.m.

Panel version: Imported from Systemic Autoinflammatory Disease_Periodic Fever panel version 0.125

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • juvenile arthritis due to defect in LACC1 MONDO:0032920
OMIM
613409
Clinvar variants
Variants in LACC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lacc1 has been classified as Green List (High Evidence).

16 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lacc1 has been classified as Green List (High Evidence).

16 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LACC1 was added gene: LACC1 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577 Phenotypes for gene: LACC1 were set to juvenile arthritis due to defect in LACC1 MONDO:0032920