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Gene: CPAMD8

Amber List (moderate 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

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:29 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • DD-Gene2Phenotype
  • Expert Review Amber
  • Anterior Segment Dysgenesis
Clinvar variants
Variants in CPAMD8
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CPAMD8 was added gene: CPAMD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to 27839872 Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis