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Prepair 1000+

Gene: COL18A1

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

1 review

Andrew Coventry (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. Features present during childhood, and vision loss is progressive.
More than 10 unrelated families reported.

Reports of heterozygous individuals displaying later onset/milder condition - Glaucoma, primary closed-angle MIM#618880. Missense, and frameshift causing truncation of transcript reported in these heterozygous individuals. (PMID:30007336).
Created: 17 Oct 2024, 10:44 a.m. | Last Modified: 17 Oct 2024, 10:44 a.m.
Panel Version: 1.420

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome, type 1 MIM#267750

Publications

Created: 17 Oct 2024, 10:44 a.m.
Last Modified: 17 Oct 2024, 10:44 a.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Knobloch syndrome, type 1, 267750 (3)
OMIM
120328
Clinvar variants
Variants in COL18A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: col18a1 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: COL18A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Knobloch syndrome, type 1, 267750 (3) for gene: COL18A1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL18A1 was added gene: COL18A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)