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| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE 158300; CARNEY COMPLEX VARIANT 608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.33 | MYH8 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. |
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| DDG2P v3.12 | MYH8 | Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYH8 |
Achchuthan Shanmugasundram Source Expert Review Red was added to MYH8. Publications for gene: MYH8 were updated from to 28377322; 15282353 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v1.131 | MYH8 | Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | MYH8 |
Rebecca Foulger Source Expert Review Green was added to MYH8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | MYH8 |
Rebecca Foulger Source Expert Review Amber was added to MYH8. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | MYH8 | Rebecca Foulger reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH8 | Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH8 |
Rebecca Foulger gene: MYH8 was added gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837 |
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