| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2574 | AGXT2 | Zornitza Stark Marked gene: AGXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2574 | AGXT2 | Zornitza Stark Gene: agxt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2574 | AGXT2 | Zornitza Stark Classified gene: AGXT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2574 | AGXT2 | Zornitza Stark Gene: agxt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | AGXT2 |
Sangavi Sivagnanasundram gene: AGXT2 was added gene: AGXT2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AGXT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT2 were set to 21572414 Phenotypes for gene: AGXT2 were set to beta-aminoisobutyric acid, urinary excretion of MONDO:0008860 Review for gene: AGXT2 was set to RED Added comment: This gene-disease association needs further evidence to support pathogenicity. PMID: 21572414 GWAS study identified common SNP (V140I - https://gnomad.broadinstitute.org/variant/5-35037010-C-T?dataset=gnomad_r4) showing the strongest association with BAIB in the present study. Sources: Literature |
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