Genetic Epilepsy
Gene: COL18A1

COL18A1 (collagen type XVIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000182871
EnsemblGeneIds (GRCh37): ENSG00000182871
OMIM: 120328, Gene2Phenotype
COL18A1 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.

More than 10 unrelated families reported.
Created: 3 May 2022, 11:30 p.m. | Last Modified: 3 May 2022, 11:30 p.m.

Panel Version: 0.13650

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome, type 1, MIM# 267750

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 May 2022, 11:30 p.m.
Last Modified: 3 May 2022, 11:30 p.m.
Panel version: Imported from Mendeliome panel version 0.13650

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Knobloch syndrome, type 1, MIM# 267750

OMIM

120328

Clinvar variants

Variants in COL18A1

Penetrance

None

Publications

Panels with this gene