Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: DPF2
Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are two cases of confirmed craniosynostosis with the same variant (p.Asp346Gly). Although there is a third case with trigonocephaly harbouring a different variant (p.Asp340Glufs*12), craniosynostosis was not radiologically confirmed in this individual. Hence, this gene should be rated AMBER.
This gene has been associated with Coffin-Siris syndrome in both OMIM (MIM #618027) and Gene2Phenotype (with a 'strong' rating in the DD panel).Created: 11 May 2023, 11:49 a.m. | Last Modified: 11 May 2023, 11:51 a.m.
Panel Version: 4.56
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 7, OMIM:618027
Publications
• Variants in DPF2 are associated with Coffin Siris syndrome. Two patients with sagittal synostosis were found to harbour a de novo c.1037A>G; p.(Asp346Gly) variant. A third patient with suspected metopic synostosis, owing to trigonocephaly, was identified with a c.1099+1G>A; p.(Asp340Glufs*12) frameshifting variant. All patients displayed phenotypic features of Coffin Siris syndrome (Vasileiou et al., 2018).
Sources: LiteratureCreated: 2 Mar 2023, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPF2 were set to
Gene: dpf2 has been classified as Amber List (Moderate Evidence).
gene: DPF2 was added gene: DPF2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: DPF2 was set to AMBER