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| DDG2P v3.27 | SYNE1 | Achchuthan Shanmugasundram Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.27 | SYNE1 | Achchuthan Shanmugasundram Phenotypes for gene: SYNE1 were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | SYNE1 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYNE1 | Achchuthan Shanmugasundram reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | SYNE1 |
Rebecca Foulger Source Expert Review Green was added to SYNE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: 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 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | SYNE1 |
Rebecca Foulger Source Expert Review Amber was added to SYNE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | SYNE1 | Rebecca Foulger reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYNE1 | Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998 |
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