Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ACVRL1

ACVRL1 (activin A receptor like type 1)
EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 9 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

PMID:35997807 reported a cohort of patients with lambdoid synostosis, where a de novo variant (p.Val228Ile) was identified in ACVRL1. Hence, this gene should be added with a red rating.
Sources: Literature
Created: 19 Jul 2023, 6:34 p.m. | Last Modified: 19 Jul 2023, 6:46 p.m.

Panel Version: 4.103

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 19 Jul 2023, 6:34 p.m.
Last Modified: 19 Jul 2023, 6:46 p.m.
Panel version: 4.101

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

601284

Clinvar variants

Variants in ACVRL1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Jul 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ACVRL1 were changed from to craniosynostosis, MONDO:0015469

19 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ACVRL1 was added gene: ACVRL1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVRL1 were set to 35997807; 36980886 Review for gene: ACVRL1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: ACVRL1