Activity
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10 actions
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| DDG2P v6.444 | HPDL | Ida Ertmanska Phenotypes for gene: HPDL were changed from HPDL Neurodegenerative Disease to HPDL Neurodegenerative Disease; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.442 | HPDL | Ida Ertmanska Tag gene-checked was removed from gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | HPDL | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HPDL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPDL | Achchuthan Shanmugasundram reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707086; Phenotypes: HPDL Neurodegenerative Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPD | Achchuthan Shanmugasundram reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942115; Phenotypes: TYROSINEMIA TYPE 3, OMIM:276710, HAWKINSINURIA, OMIM:140350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HPDL |
Achchuthan Shanmugasundram gene: HPDL was added gene: HPDL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to HPDL Neurodegenerative Disease |
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| DDG2P v3.11 | HPD |
Achchuthan Shanmugasundram Source Expert Review Green was added to HPD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | HPD | Rebecca Foulger reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HPD |
Rebecca Foulger Added phenotypes TYROSINEMIA TYPE 3 276710 for gene: HPD Publications for gene HPD were changed from to 10942115 |
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| DDG2P v0.1 | HPD |
Rebecca Foulger gene: HPD was added gene: HPD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to HAWKINSINURIA 140350 |
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