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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.59 | DPH1 |
Achchuthan Shanmugasundram changed review comment from: Sagittal craniosynostosis was reported in one of the four North American patients identified with biallelic variants (c.17T>A/ p.Met6Lys) in DPH1 gene in PMID:26220823. A family of two affected siblings identified with recessive variants (c.374 T > C/ p.Leu125Pro) in DPH1 presented with metopic synostosis.; to: Sagittal craniosynostosis was reported in one of the four North American patients identified with biallelic variants (c.17T>A/ p.Met6Lys) in DPH1 gene in PMID:26220823. A family of two affected siblings identified with recessive variants (c.374 T > C/ p.Leu125Pro) in DPH1 presented with metopic synostosis. This gene has been associated with relevant phenotypes in OMIM (MIM #616901). |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.59 | DPH1 | Achchuthan Shanmugasundram Phenotypes for gene: DPH1 were changed from to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.58 | DPH1 | Achchuthan Shanmugasundram Publications for gene: DPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.57 | DPH1 | Achchuthan Shanmugasundram Classified gene: DPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.57 | DPH1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are only two unrelated cases. Hence, this gene should be rated AMBER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.57 | DPH1 | Achchuthan Shanmugasundram Gene: dph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.56 | DPH1 | Achchuthan Shanmugasundram reviewed gene: DPH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26220823, 30877278; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | DPH1 |
Rebecca Tooze gene: DPH1 was added gene: DPH1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: DPH1 was set to AMBER Added comment: • A patient was described with short stature, sagittal craniosynostosis and dysmorphic features including scaphocephaly, sparse hair, multiple dental anomalies, epicanthal folds and hypoplastic toenails to harbour a homozygous missense variant in DPH1: c.17T>A; p.(Met6Lys) (born to consanguineous parents). • A family with two affected siblings were described and one was confirmed to have metopic synostosis. They harboured a recessive c.335A>G; p.(Tyr112Cys) variant (Urreizti et al., 2020). Sources: Literature |
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