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| DDG2P v3.12 | DARS2 | Achchuthan Shanmugasundram reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17384640; Phenotypes: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS | Achchuthan Shanmugasundram reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23643384; Phenotypes: HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | DARS2 | Rebecca Foulger commented on gene: DARS2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | DARS | Louise Daugherty commented on gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | DARS2 |
Rebecca Foulger Source Expert Review Green was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | DARS2 | Rebecca Foulger commented on gene: DARS2: 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 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | DARS2 |
Rebecca Foulger Source Expert Review Amber was added to DARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | DARS2 | Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DARS | Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DARS2 |
Rebecca Foulger gene: DARS2 was added gene: DARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 17384640 Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105 |
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| DDG2P v0.1 | DARS |
Rebecca Foulger gene: DARS was added gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384 Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments |
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