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  3. CPAMD8
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Eye Anterior Segment Abnormalities

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

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32274568 - Rare biallelic CPAMD8 variants identified in four patients with Congenital glaucoma with anterior segment dysgenesis. Bioinformatic and in vitro functional evaluation of the variants using quantitative reverse transcription PCR and minigene analysis supported a loss-of-function pathogenic mechanism.
Created: 7 Dec 2020, 4:26 a.m. | Last Modified: 7 Dec 2020, 4:26 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment dysgenesis

Publications

Created: 7 Dec 2020, 4:26 a.m.
Last Modified: 7 Dec 2020, 4:26 a.m.
Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis
OMIM
608841
Clinvar variants
Variants in CPAMD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis

7 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CPAMD8 were set to 32274568

7 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CPAMD8 were set to

7 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CPAMD8 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: CPAMD8 was added gene: CPAMD8 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CPAMD8 was set to Unknown