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Fetal anomalies

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

2 reviews

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Several patients have been found to have brain malformations, although these are relatively rare and not traditionally considered a hallmark feature of Knobloch syndrome.

In additional to more typical features of Knobloch syndrome, the following patients had these brain malformations:

PMID: 25456301 – 3 unrelated patients with polymicrogyria, 1 unrelated patient with cerebellar vermian atrophy. All with homozygous frameshift variants in COL18A1 (consanguineous parents in each case)

PMID: 19160445 – 2 affected siblings with polymicrogyria, both with homozygous frameshift variant in COL18A1

PMID: 17546652 – 1 patient with pachygyria/polymicrogyria and heterotopic hypersignals, with a homozygous splicing variant in COL18A1

At least 5 unrelated families have been described with biallelic loss of function variants in COL18A1 and malformations of cortical development in addition to typical features of Knobloch syndrome. Recommended for green status.
Created: 28 Apr 2020, 1:39 a.m. | Last Modified: 28 Apr 2020, 1:39 a.m.
Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome, type 1 MIM# 267750

Publications

Created: 28 Apr 2020, 1:39 a.m.
Last Modified: 28 Apr 2020, 1:39 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.45

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome, type 1, MIM#267750

Created: 28 Nov 2019, 8:26 p.m.
Last Modified: 28 Nov 2019, 8:26 p.m.
Panel version: 0.567

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Knobloch syndrome, type 1 MIM# 267750
OMIM
120328
Clinvar variants
Variants in COL18A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I to Knobloch syndrome, type 1 MIM# 267750

19 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL18A1 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I