Combined Immunodeficiency
Gene: CCBE1
13 affected individuals from 8 unrelated families; with homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified; two mouse studies; zebrafish functional analysis
Commonly presents with facial abnormalities, lymphoedema in limbs, varied ID and low serum albumin levels.Created: 20 Jul 2021, 2:17 a.m. | Last Modified: 20 Jul 2021, 2:17 a.m.
Panel Version: 0.208
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia
Publications
Gene: ccbe1 has been classified as Green List (High Evidence).
Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; lymphangiectasia and lymphoedema; facial abnormalities; dysmorphic features; hypoalbuminaemia; intellectual disability; hypoglobulinaemia
Publications for gene: CCBE1 were set to
Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CCBE1 was added gene: CCBE1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CCBE1 was set to Unknown