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  2. Meiges disease
  3. CCBE1
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Meiges disease

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 10 panels

1 review

Pia Ostergaard (St George's)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome, 235510
  • Hennekam Lymphangiectasia-Lymphedema Syndrome
OMIM
612753
Clinvar variants
Variants in CCBE1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2016, Gel status: 4

panel promoted to version 1

Richard Scott (Genomics England Curator)

Ready for version 1

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CCBE1 was added to Meiges diseasepanel. Source: UKGTN

7 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal

7 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CCBE1 was added to Meiges diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCBE1 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen