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  3. LCP2
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Combined Immunodeficiency

Gene: LCP2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two patients, functional data.
Created: 27 Mar 2023, 1:08 a.m. | Last Modified: 27 Mar 2023, 1:08 a.m.
Panel Version: 1.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 81, MIM# 619374

Created: 27 Mar 2023, 1:08 a.m.
Last Modified: 27 Mar 2023, 1:08 a.m.
Panel version: 1.33

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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.
Previous unrelated patient reported in PMID: 33231617 with SCID phenotype.
Sources: Literature
Created: 28 Dec 2022, 11:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 28 Dec 2022, 11:47 p.m.

Panel version: 1.31

Details

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

History Filter Activity

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcp2 has been classified as Green List (High Evidence).

27 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LCP2 were changed from to Immunodeficiency 81, MIM# 619374

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcp2 has been classified as Green List (High Evidence).

28 Dec 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: LCP2 was added gene: LCP2 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCP2 were set to PMID: 36474126; PMID: 33231617 Review for gene: LCP2 was set to GREEN