| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.88 | MTRR | Zornitza Stark Marked gene: MTRR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.88 | MTRR | Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.88 | MTRR | Zornitza Stark Classified gene: MTRR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.88 | MTRR | Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.87 | MTR | Zornitza Stark Marked gene: MTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.87 | MTR | Zornitza Stark Gene: mtr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.87 | MTR | Zornitza Stark Classified gene: MTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.87 | MTR | Zornitza Stark Gene: mtr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | MTRR |
Sangavi Sivagnanasundram gene: MTRR was added gene: MTRR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 10484769; 12555939; 15714522; 17369066 Phenotypes for gene: MTRR were set to methylcobalamin deficiency type cblE MONDO:0009354 Review for gene: MTRR was set to GREEN Added comment: Well established gene-disease association with reported individuals having errors in cobalamin metabolism. Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005505 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MTR |
Sangavi Sivagnanasundram gene: MTR was added gene: MTR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 12068375; 30651581; 31951343 Phenotypes for gene: MTR were set to methylcobalamin deficiency type cblG MONDO:0009609 Review for gene: MTR was set to GREEN Added comment: Well established gene-disease association with reported individuals having a deficiency methionine synthase. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005503 Sources: ClinGen |
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