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| DDG2P v3.40 | ACTL6B | Achchuthan Shanmugasundram Tag watchlist was removed from gene: ACTL6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTL6B | Achchuthan Shanmugasundram reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28867141, 30656450, 31031012; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACTL6B | Achchuthan Shanmugasundram Publications for gene: ACTL6B were updated from 28867141; 31130285 to 28867141; 30656450; 31031012; 31130285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.155 | ACTL6B | Rebecca Foulger Tag watchlist tag was added to gene: ACTL6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | ACTL6B | Rebecca Foulger Added comment: Comment on phenotypes: Removed 'Unspecified Neurodevelopmental Disorder' from phenotypes to match G2P update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | ACTL6B | Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.121 | ACTL6B | Rebecca Foulger Classified gene: ACTL6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.121 | ACTL6B | Rebecca Foulger Added comment: Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.121 | ACTL6B | Rebecca Foulger Gene: actl6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.120 | ACTL6B | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.120 | ACTL6B | Rebecca Foulger Mode of pathogenicity for gene: ACTL6B was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.119 | ACTL6B | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.119 | ACTL6B | Rebecca Foulger Mode of inheritance for gene: ACTL6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.118 | ACTL6B |
Rebecca Foulger commented on gene: ACTL6B: Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019: New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic. New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic. |
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| DDG2P v1.118 | ACTL6B | Rebecca Foulger Publications for gene: ACTL6B were set to 28867141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.117 | ACTL6B | Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.116 | ACTL6B | Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame ; to: Original DDG2P rating for Unspecified Neurodevelopmental Disorder: possible. DDG2P mode of pathogenicity: all missense/in frame; DG2P allelic requirement: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ACTL6B | Rebecca Foulger reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ACTL6B |
Rebecca Foulger gene: ACTL6B was added gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTL6B were set to 28867141 Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments |
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