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  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. ACVR2A
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: ACVR2A

Red List (low evidence)
ACVR2A (activin A receptor type 2A)
EnsemblGeneIds (GRCh38): ENSG00000121989
EnsemblGeneIds (GRCh37): ENSG00000121989
OMIM: 102581, Gene2Phenotype
ACVR2A is in 1 panel

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.Thr63Ala) was identified in ACVR2A. Hence, this gene should be added with a red rating.
Sources: Literature
Created: 19 Jul 2023, 6:45 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 19 Jul 2023, 6:45 p.m.

Panel version: 4.103

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
102581
Clinvar variants
Variants in ACVR2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ACVR2A was added gene: ACVR2A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ACVR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR2A were set to 35997807; 36980886 Phenotypes for gene: ACVR2A were set to craniosynostosis, MONDO:0015469 Review for gene: ACVR2A was set to RED