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Fetal anomalies

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

DDG2P rating in original PAGE list: Probable for Anterior Segment Dysgenesis
Created: 11 Dec 2018, 9:04 a.m.


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

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

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