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  3. CPAMD8
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Glaucoma (developmental)

Gene: CPAMD8

Green List (high evidence)
CPAMD8 (C3 and PZP like, alpha-2-macroglobulin domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000160111
EnsemblGeneIds (GRCh37): ENSG00000160111
OMIM: 608841, Gene2Phenotype
CPAMD8 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by expert reviewer. This gene has been given a Green rating based on the level of evidence to support gene-disease association and also that it is also a Green gene on the GMS Structural eye disease (v1.0, code: 509).
Created: 29 Jan 2020, 9:48 a.m. | Last Modified: 29 Jan 2020, 9:48 a.m.
Panel Version: 1.7
Created: 29 Jan 2020, 9:48 a.m.
Last Modified: 29 Jan 2020, 9:48 a.m.
Panel version: 1.7

Owen Siggs (Flinders University)

Green List (high evidence)

Biallelic variants associated with autosomal recessive anterior segment dysgenesis (three published pedigrees; PMID: 27839872), or anterior segment dysgenesis with glaucoma (eight published pedigrees; PMID: 29556725, DOI: 10.1016/j.ophtha.2019.12.024).
Sources: Literature
Created: 18 Jan 2020, 5:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glaucoma; anterior segment dysgenesis; retinal detachment; cataract

Publications

  • DOI: 10.1016/j.ophtha.2019.12.024, PMID: 29556725

Created: 18 Jan 2020, 5:19 a.m.

Panel version: 1.5

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Cheong: three families with anterior segment dysgenesis
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glaucoma
  • anterior segment dysgenesis 8, 617319
  • retinal detachment
  • cataract
OMIM
608841
Clinvar variants
Variants in CPAMD8
Penetrance
unknown
Publications
  • DOI: 10.1016/j.ophtha.2019.12.024, PMID: 29556725
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cpamd8 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CPAMD8 were changed from Glaucoma; anterior segment dysgenesis; retinal detachment; cataract to Glaucoma; anterior segment dysgenesis 8, 617319; retinal detachment; cataract

18 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Owen Siggs (Flinders University)

gene: CPAMD8 was added gene: CPAMD8 was added to Glaucoma (developmental). Sources: Literature Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to DOI: 10.1016/j.ophtha.2019.12.024, PMID: 29556725 Phenotypes for gene: CPAMD8 were set to Glaucoma; anterior segment dysgenesis; retinal detachment; cataract Penetrance for gene: CPAMD8 were set to unknown Review for gene: CPAMD8 was set to GREEN