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  3. SMURF1
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SMURF1

Red List (low evidence)
SMURF1 (SMAD specific E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000198742
EnsemblGeneIds (GRCh37): ENSG00000198742
OMIM: 605568, Gene2Phenotype
SMURF1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

An individual was described with metopic synostosis and a de novo variant in SMURF1 (p.Arg468Trp) (PMID:28808027).
Sources: Literature
Created: 23 Jul 2023, 7:14 p.m. | Last Modified: 23 Jul 2023, 7:14 p.m.
Panel Version: 4.162

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 7:14 p.m.
Last Modified: 23 Jul 2023, 7:14 p.m.
Panel version: 4.162

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
605568
Clinvar variants
Variants in SMURF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMURF1 was added gene: SMURF1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SMURF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMURF1 were set to 28808027; 36980886 Phenotypes for gene: SMURF1 were set to craniosynostosis, MONDO:0015469 Review for gene: SMURF1 was set to RED