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  2. Autoimmune Lymphoproliferative Syndrome
  3. PRKCD
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Autoimmune Lymphoproliferative Syndrome

Gene: PRKCD

Green List (high evidence)
PRKCD (protein kinase C delta)
EnsemblGeneIds (GRCh38): ENSG00000163932
EnsemblGeneIds (GRCh37): ENSG00000163932
OMIM: 176977, Gene2Phenotype
PRKCD is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:37794137; lit review with >10 families
Sources: Literature
Created: 15 Jan 2025, 1:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune lymphoproliferative syndrome, type III MIM#615559

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jan 2025, 1:32 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type III MIM#615559
OMIM
176977
Clinvar variants
Variants in PRKCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Jan 2025, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PRKCD was added gene: PRKCD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKCD were set to 37794137 Phenotypes for gene: PRKCD were set to Autoimmune lymphoproliferative syndrome, type III MIM#615559 Review for gene: PRKCD was set to GREEN gene: PRKCD was marked as current diagnostic