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  2. Severe Combined Immunodeficiency (absent T absent B cells)
  3. LCP2
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Severe Combined Immunodeficiency (absent T absent B cells)

Gene: LCP2

Amber List (moderate evidence)
LCP2 (lymphocyte cytosolic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000043462
EnsemblGeneIds (GRCh37): ENSG00000043462
OMIM: 601603, Gene2Phenotype
LCP2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 36474126: 3-year-old child who was born to first-cousins parents and presented with recurrent infections, failure to thrive, and severe EBV-related infection and lymphoproliferation. Functional testing linking gene with impaired t cell signalling.
Created: 27 Mar 2023, 1:22 a.m. | Last Modified: 27 Mar 2023, 1:22 a.m.
Panel Version: 1.4
Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation.
Sources: Literature
Created: 25 Nov 2020, 10:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency

Publications

Created: 25 Nov 2020, 10:47 a.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 81, MIM# 619374
  • Severe combined immunodeficiency
OMIM
601603
Clinvar variants
Variants in LCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcp2 has been classified as Amber List (Moderate Evidence).

20 Jun 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LCP2 were changed from Severe combined immunodeficiency to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LCP2 was added gene: LCP2 was added to Severe Combined Immunodeficiency (absent T absent B cells). 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 Severe combined immunodeficiency Review for gene: LCP2 was set to RED