Combined Immunodeficiency

Gene: CCBE1

Green List (high evidence)

CCBE1 (collagen and calcium binding EGF domains 1)
EnsemblGeneIds (GRCh38): ENSG00000183287
EnsemblGeneIds (GRCh37): ENSG00000183287
OMIM: 612753, Gene2Phenotype
CCBE1 is in 12 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
  • lymphangiectasia and lymphoedema
  • facial abnormalities
  • dysmorphic features
  • hypoalbuminaemia
  • intellectual disability
  • hypoglobulinaemia
OMIM
612753
Clinvar variants
Variants in CCBE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccbe1 has been classified as Green List (High Evidence).

20 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CCBE1 were set to

20 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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