DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Disease: Coffin-Siris syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE We add the clinical description of another patient with a novel mutation in DPF2, with a mild phenotype, thus trying to contribute to enlarge CSS phenotypic variability. 31706665 2020
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE This individual further broadens the phenotypic features of DPF2-related CSS, as well as CSS more generally. 31207137 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GermlineCausalMutation disease ORPHANET Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity. 29429572 2018
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity. 29429572 2018