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| DDG2P v6.17 | DNA2 | Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts are limited, biallelic_autosomal and undetermined (PMIDs: 24389050, 31045292, 37055165). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00662.; Changed rating: RED; Changed publications to: 24389050, 31045292, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, MONDO:0014350, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807, OMIM:615807.0, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | DNA2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to DNA2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v4.10 | DNA2 | Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category for the disease DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;37055165;31045292).; Changed rating: GREEN; Changed publications to: 31045292, 24389050, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | DNA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNA2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | DNA2 | Achchuthan Shanmugasundram reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DNA2 | Rebecca Foulger reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DNA2 |
Rebecca Foulger gene: DNA2 was added gene: DNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 24389050 Phenotypes for gene: DNA2 were set to PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 |
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