Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SP7

SP7 (Sp7 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000170374
EnsemblGeneIds (GRCh37): ENSG00000170374
OMIM: 606633, Gene2Phenotype
SP7 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo missense variant (c.926 C>G; p.Ser309Trp) in SP7 was identified in a patient with craniosynostosis, cranial hyperostosis, and long bone fragility. Mice with the corresponding variant also show a complex skeletal phenotype distinct from that of Sp7-null mice (PMID:35121733).
Sources: Literature
Created: 23 Jul 2023, 7:24 p.m.

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

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 7:24 p.m.

Panel version: 4.163

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

606633

Clinvar variants

Variants in SP7

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: SP7 was added gene: SP7 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SP7 were set to 35121733; 36980886 Phenotypes for gene: SP7 were set to craniosynostosis, MONDO:0015469 Review for gene: SP7 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: SP7