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| DDG2P v3.26 | SPTLC2 | Achchuthan Shanmugasundram Phenotypes for gene: SPTLC2 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.25 | SPTLC2 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTLC2 | Achchuthan Shanmugasundram reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPTLC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPTLC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | SPTLC2 |
Rebecca Foulger Source Expert Review Green was added to SPTLC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: 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 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | SPTLC2 |
Rebecca Foulger Source Expert Review Amber was added to SPTLC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | SPTLC2 | Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 Mode of pathogenicity for gene: SPTLC2 was set to Other - please provide details in the comments |
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