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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.56 | DPF2 |
Achchuthan Shanmugasundram changed review comment from: 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.; to: 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). |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.56 | DPF2 | Achchuthan Shanmugasundram Publications for gene: DPF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.55 | DPF2 | Achchuthan Shanmugasundram Classified gene: DPF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.55 | DPF2 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.55 | DPF2 | Achchuthan Shanmugasundram Gene: dpf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.54 | DPF2 | Achchuthan Shanmugasundram reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29429572; Phenotypes: Coffin-Siris syndrome 7, OMIM:618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | DPF2 |
Rebecca Tooze 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 Added comment: • 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: Literature |
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