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| DDG2P v3.73 | ADAMTS9 | Eleanor Williams commented on gene: ADAMTS9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ADAMTS9 | Eleanor Williams Tag gene-checked tag was added to gene: ADAMTS9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAMT | Achchuthan Shanmugasundram reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8651275, 15651030, 17101918; Phenotypes: GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, OMIM:612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMTA1 | Achchuthan Shanmugasundram reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693284; Phenotypes: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMT | Achchuthan Shanmugasundram reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTSL2 | Achchuthan Shanmugasundram reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18677313, 21415077; Phenotypes: GELEOPHYSIC DYSPLASIA 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS9 | Achchuthan Shanmugasundram reviewed gene: ADAMTS9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609407; Phenotypes: Nephronophthisis Related Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS18 | Achchuthan Shanmugasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 24874986, 23818446, 22686506; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GAMT | Achchuthan Shanmugasundram Publications for gene: GAMT were updated from 17101918; 15651030; 8651275 to 8651275; 15651030; 17101918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CAMTA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CAMTA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ADAMTSL2 |
Achchuthan Shanmugasundram gene: ADAMTSL2 was added gene: ADAMTSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL2 were set to 18677313; 21415077 Phenotypes for gene: ADAMTSL2 were set to GELEOPHYSIC DYSPLASIA 1 |
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| DDG2P v3.11 | ADAMTS9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9. Mode of pathogenicity for gene ADAMTS9 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ADAMTS18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS18. Publications for gene: ADAMTS18 were updated from 21862674 to 24874986; 21862674; 23818446; 22686506 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v1.38 | ADAMTS9 | Rebecca Foulger reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | ADAMTS9 |
Rebecca Foulger gene: ADAMTS9 was added gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments |
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| DDG2P v0.2 | GAMT | Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CAMTA1 | Rebecca Foulger reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AMT | Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADAMTS18 | Rebecca Foulger reviewed gene: ADAMTS18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GAMT |
Rebecca Foulger gene: GAMT was added gene: GAMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 17101918; 15651030; 8651275 Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 |
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| DDG2P v0.1 | CAMTA1 |
Rebecca Foulger gene: CAMTA1 was added gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMTA1 were set to 22693284 Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756 |
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| DDG2P v0.1 | AMT |
Rebecca Foulger gene: AMT was added gene: AMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY 605899 |
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| DDG2P v0.1 | ADAMTS18 |
Rebecca Foulger gene: ADAMTS18 was added gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS18 were set to 21862674 Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454 Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments |
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