Glaucoma congenital
Gene: CPAMD8
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
EnsemblGeneIds (GRCh38): ENSG00000160111
EnsemblGeneIds (GRCh37): ENSG00000160111
OMIM: 608841, Gene2Phenotype
CPAMD8 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Anterior segment dysgenesis, glaucoma specifically reported in 8 families.
Sources: Expert listCreated: 2 Aug 2020, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 8, MIM# 617319
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Anterior segment dysgenesis 8, MIM# 617319
- OMIM
- 608841
- Clinvar variants
- Variants in CPAMD8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Aug 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).
2 Aug 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).
2 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CPAMD8 was added gene: CPAMD8 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to 29556725 Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319 Review for gene: CPAMD8 was set to GREEN