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| Intellectual disability - microarray and sequencing v3.45 | PHF21A | Rebecca Foulger Added comment: Comment on phenotypes: Potocki-Shaffer syndrome (MIM:601224) is a contiguous gene deletion syndrome involving genes on chromosome 11p11.2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.45 | PHF21A | Rebecca Foulger Phenotypes for gene: PHF21A were changed from Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 to Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.44 | PHF21A | Rebecca Foulger Phenotypes for gene: PHF21A were changed from Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability to Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.991 | PHF21A | Catherine Snow Classified gene: PHF21A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.991 | PHF21A | Catherine Snow Gene: phf21a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.990 | PHF21A |
Catherine Snow changed review comment from: Potocki-Shaffer syndrome thought to caused by a deletion of 11p11.2, the minimum deleted region contains at least five genes, including PHF21A. Hamanaka et al in PMID: 30487643 reported on three individuals who all underwent trio WES to have de novo, variants in PHF21A. All individuals had DD and ID although mild in one case. PHF21A is not currently associated with any phenotypes in OMIM but is classed probable and associated with Disease: POTOCKI-SHAFFER SYNDROME in Gene2Phenotype. Combined with the functional evidence and two expert reviews, there is now enough evidence for PHF21A to be classed as Green.; to: Potocki-Shaffer syndrome thought to caused by a deletion of 11p11.2, the minimum deleted region contains at least five genes, including PHF21A. Hamanaka et al in PMID: 30487643 reported on three individuals who all underwent trio WES to have de novo, variants in PHF21A. All individuals had DD and ID although mild in one case. This is the first reporting of LOF variants solely in PHF21A. PHF21A is not currently associated with any phenotypes in OMIM but is classed probable and associated with Disease: POTOCKI-SHAFFER SYNDROME in Gene2Phenotype. Combined with the functional evidence and two expert reviews, there is now enough evidence for PHF21A to be classed as Green. |
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| Intellectual disability - microarray and sequencing v2.990 | PHF21A | Catherine Snow reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.984 | PHF21A | Catherine Snow Publications for gene: PHF21A were set to 22770980; 26333423; 8456828; 8882796; 14872200; 9489802; 11017806; 11903336; 15852040; 23239541; 28127865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.632 | PHF21A | Alistair Pagnamenta reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30487643, 22770980, 27124303, 28127865, 26333423; Phenotypes: intellectual disability, craniofacial anomalies, epilepsy, ASD, overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.562 | PHF21A | Konstantinos Varvagiannis reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22770980, 30487643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||