NFKBIA

NFKB inhibitor alpha
OMIM: 164008, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green NFKBIA in Mendeliome Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Ectodermal dysplasia TCR/ BCR activation impaired low memory and isotype switched B cells decreased IgG and IgA elevated IgM poor specific antibody responses diarrhoea agammaglobulinaemia ectodermal dysplasia recurrent respiratory and gastrointestinal infections colitis variable defects of skin, hair and teeth
Green NFKBIA in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Ectodermal dysplasia TCR/ BCR activation impaired low memory and isotype switched B cells decreased IgG and IgA elevated IgM poor specific antibody responses diarrhoea agammaglobulinaemia ectodermal dysplasia recurrent respiratory and gastrointestinal infections colitis variable defects of skin, hair and teeth
Green NFKBIA in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM#612132
Green NFKBIA in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green NFKBIA in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Tags treatable immunological