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| DDG2P v3.12 | H3F3A | Achchuthan Shanmugasundram reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356, 33057194, 31942419; Phenotypes: Craniofacial with neurodevelopment disorders, H3F3A associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | H3F3A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356 |
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| DDG2P v2.16 | H3F3A | Arina Puzriakova Publications for gene: H3F3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.15 | H3F3A | Arina Puzriakova Classified gene: H3F3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.15 | H3F3A |
Arina Puzriakova Added comment: Comment on list classification: Changed rating to Green as H3F3A is listed in Gene2Phenotype under the new gene name, H3-3A. Associated with 'Craniofacial with neurodevelopment disorders' with a disease confidence rating of 'confirmed' |
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| DDG2P v2.15 | H3F3A | Arina Puzriakova Gene: h3f3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.14 | H3F3A | Arina Puzriakova commented on gene: H3F3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.14 | H3F3A | Arina Puzriakova Tag new-gene-name tag was added to gene: H3F3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.43 | H3F3A | Rebecca Foulger Classified gene: H3F3A as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.43 | H3F3A | Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.43 | H3F3A | Rebecca Foulger Gene: h3f3a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | H3F3A | Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | H3F3A |
Rebecca Foulger gene: H3F3A was added gene: H3F3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders Mode of pathogenicity for gene: H3F3A was set to Other - please provide details in the comments |
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