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  2. Clefting disorders
  3. COBLL1
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Clefting disorders

Gene: COBLL1

Amber List (moderate evidence)
COBLL1 (cordon-bleu WH2 repeat protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000082438
EnsemblGeneIds (GRCh37): ENSG00000082438
OMIM: 610318, Gene2Phenotype
COBLL1 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

PMID:36493769 identified the same multi-exon intragenic deletion by high-res microarray in 3 individuals with non-syndromic cleft lip/palate. The deletion is absent from gnomAD. Inheritance information was only available for 1 individual, in whom it was inherited from an unaffected father. Note that the gene is not quite LOF constrained in gnomAD.

Knockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos.
Sources: Literature
Created: 5 Jan 2023, 3:55 a.m. | Last Modified: 5 Jan 2023, 3:56 a.m.
Panel Version: 0.189

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cleft lip/palate MONDO:0016044, COBLL1-related

Publications

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

Created: 5 Jan 2023, 3:55 a.m.
Last Modified: 5 Jan 2023, 3:56 a.m.
Panel version: 0.189

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cleft lip/palate MONDO:0016044, COBLL1-related
OMIM
610318
Clinvar variants
Variants in COBLL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cobll1 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cobll1 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: COBLL1 was added gene: COBLL1 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: COBLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COBLL1 were set to 36493769 Phenotypes for gene: COBLL1 were set to Cleft lip/palate MONDO:0016044, COBLL1-related Review for gene: COBLL1 was set to AMBER gene: COBLL1 was marked as current diagnostic