| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.24 | ADK | Zornitza Stark Marked gene: ADK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.24 | ADK | Zornitza Stark Gene: adk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.24 | ADK | Zornitza Stark Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.23 | ADK | Zornitza Stark Classified gene: ADK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.23 | ADK | Zornitza Stark Gene: adk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ADK |
Sangavi Sivagnanasundram changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ADK | Sangavi Sivagnanasundram edited their review of gene: ADK: Changed phenotypes: adenosine kinase deficiency MONDO:0100255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ADK |
Sangavi Sivagnanasundram changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ADK | Sangavi Sivagnanasundram edited their review of gene: ADK: Changed phenotypes: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ADK |
Sangavi Sivagnanasundram gene: ADK was added gene: ADK was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891 Phenotypes for gene: ADK were set to adenosine kinase deficiency MONDO:0100255 Review for gene: ADK was set to GREEN Added comment: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen |
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