Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: LACC1

LACC1 (laccase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000179630
EnsemblGeneIds (GRCh37): ENSG00000179630
OMIM: 613409, Gene2Phenotype
LACC1 is in 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 3:34 p.m. | Last Modified: 26 Sep 2024, 3:34 p.m.

Panel Version: 6.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 3:34 p.m.
Last Modified: 26 Sep 2024, 3:34 p.m.
Panel version: 6.10

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the association of this gene with juvenile arthritis and hence with this panel. So, this gene should be promoted to green rating in the next GMS review.
Created: 14 Feb 2024, 1:24 p.m. | Last Modified: 14 Feb 2024, 1:24 p.m.

Panel Version: 4.166

Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #618795), but not yet in Gene2Phenotype.
Created: 14 Feb 2024, 1:21 p.m. | Last Modified: 14 Feb 2024, 1:21 p.m.

Panel Version: 4.164

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Juvenile arthritis, OMIM:618795

Publications

Created: 14 Feb 2024, 1:20 p.m.
Last Modified: 14 Feb 2024, 1:20 p.m.
Panel version: 4.163

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 25220867 (2015) - in 13 patients and unaffected members of 5 consanguineous Saudi Arabian families with systemic juvenile idiopathic arthritis, a homozygous missense variant in LACC1 was identified (p.C284R). This segregated fully with disease, and haplotype analysis was consistent with a common founder for the 5 families. Systemic features were present including organomegaly, fevers and rashes
PMID: 27881174 (2016) - 2 Lebanese sisters with juvenile arthritis found to have a homozygous 1bp deletion in LACC1 (c.827delC). Present in heterozygosity in their unaffected consanguineous parents, but was not found in 2 unaffected sibs or in the ExAC database
PMID: 29717096 (2018) identified three different families with homozygous LACC1 variants (p.M1I, p.R414X, p.Ile330del)
PMID: 30872671 (2019) - three affected siblings with a homozygous variant (p.Cys43TyrfsTer6)
Sources: Literature
Created: 13 Feb 2024, 10:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Juvenile arthritis

Created: 13 Feb 2024, 10:49 a.m.

Panel version: 4.163

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Juvenile arthritis, OMIM:618795

OMIM

613409

Clinvar variants

Variants in LACC1

Penetrance

None

Publications

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: LACC1. Tag Q1_24_NHS_review was removed from gene: LACC1.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LACC1. Source Expert Review Green was added to LACC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Feb 2024, Gel status: 2