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Primary immunodeficiency

Gene: LCP2

Red List (low evidence)

LCP2 (lymphocyte cytosolic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000043462
EnsemblGeneIds (GRCh37): ENSG00000043462
OMIM: 601603, Gene2Phenotype
LCP2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer (University of Florence). Rating Red pending publication of the Lev et al., 2021 article. Paper only describes a single individual and additional cases would be required before inclusion of LCP2 on an immunodeficiency panel.
Created: 1 Dec 2020, 3:27 p.m. | Last Modified: 1 Dec 2020, 3:27 p.m.
Panel Version: 2.384
Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 33231617 (2021) - Full paper is not yet published and will be available in the March 2021 issue of JEM. Based on the Brief Definitive Report: Infant with biallelic variants in the LCP2 gene and severe immunodeficiency characterised by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. Functional studies showed that aspects of the patient's immune phenotype could be recapitulated using an LCP2-deficient Jurkat-derived T cell line and subsequently rescued by ectopic expression of wild-type LCP2.
Created: 1 Dec 2020, 3:18 p.m. | Last Modified: 1 Dec 2020, 3:18 p.m.
Panel Version: 2.383

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe immunodeficiency

Publications

Boaz Palterer (University of Florence)

I don't know

One patient with severe combined immunodeficiency was found to have biallelic mutations in SLP76.
Sources: Literature
Created: 27 Nov 2020, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • SCID
  • combined T and B cell immunodeficiency
  • severe neutrophil defects
  • impaired platelet aggregation
Tags
watchlist
OMIM
601603
Clinvar variants
Variants in LCP2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Dec 2020, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: LCP2.

1 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lcp2 has been classified as Red List (Low Evidence).

27 Nov 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: LCP2 was added gene: LCP2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCP2 were set to 33231617 Phenotypes for gene: LCP2 were set to SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation Penetrance for gene: LCP2 were set to unknown Review for gene: LCP2 was set to AMBER