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  2. Combined Immunodeficiency
  3. LCP1
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Combined Immunodeficiency

Gene: LCP1

Amber List (moderate evidence)
LCP1 (lymphocyte cytosolic protein 1)
EnsemblGeneIds (GRCh38): ENSG00000136167
EnsemblGeneIds (GRCh37): ENSG00000136167
OMIM: 153430, Gene2Phenotype
LCP1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Phenotypes
Bone marrow failure syndrome, MONDO:0000159, LCP1-related

Created: 13 May 2024, 8:47 a.m.
Last Modified: 13 May 2024, 8:47 a.m.
Panel version: 1.59

Peter McNaughton (Queensland Children's Hospital)

I don't know

3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopaenia, neutropaenia and thrombocytopaenia. Murine model with similar phenotype.
heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Created: 13 May 2024, 2:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
lymphopaenia and neutropaenia

Publications

Mode of pathogenicity
Other

Created: 13 May 2024, 2:55 a.m.

Panel version: 1.59

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Bone marrow failure syndrome, MONDO:0000159, LCP1-related
OMIM
153430
Clinvar variants
Variants in LCP1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcp1 has been classified as Amber List (Moderate Evidence).

13 May 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LCP1 were changed from lymphopaenia and neutropaenia to Bone marrow failure syndrome, MONDO:0000159, LCP1-related

13 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcp1 has been classified as Amber List (Moderate Evidence).

13 May 2024, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: LCP1 was added gene: LCP1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LCP1 were set to PMID: 38710235 Phenotypes for gene: LCP1 were set to lymphopaenia and neutropaenia Mode of pathogenicity for gene: LCP1 was set to Other Review for gene: LCP1 was set to AMBER