Glaucoma (developmental)
Gene: CPAMD8Comment 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
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: LiteratureCreated: 18 Jan 2020, 5:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma; anterior segment dysgenesis; retinal detachment; cataract
Publications
DB Cheong: three families with anterior segment dysgenesisCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: cpamd8 has been classified as Green List (High Evidence).
Phenotypes for gene: CPAMD8 were changed from Glaucoma; anterior segment dysgenesis; retinal detachment; cataract to Glaucoma; anterior segment dysgenesis 8, 617319; retinal detachment; cataract
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