PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
OMIM: 602839, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber PIK3CD in Ciliary Dyskinesia Level 2: Respiratory disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 14 615513
Green PIK3CD in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PIK3CD in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513
Green PIK3CD in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 14, MIM# 615513
Green PIK3CD in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513
Green PIK3CD in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 14, MIM # 615513
Green PIK3CD in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags treatable immunological
Green PIK3CD in Autoimmune Lymphoproliferative Syndrome Level 2: Immunological disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513