CCBE1

collagen and calcium binding EGF domains 1
OMIM: 612753, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green CCBE1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
  • generalised lymphatic dysplasia
  • fetal hydrops
Green CCBE1 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Green CCBE1 in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green CCBE1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
Green CCBE1 in Vascular skin disorders


Version 1.63
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green CCBE1 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Red CCBE1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Green CCBE1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
    Green CCBE1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
    Green CCBE1 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London South GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
    Green CCBE1 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510