Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Neuropathy - complex v0.256 | TTR | Zornitza Stark Marked gene: TTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.256 | TTR | Zornitza Stark Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.256 | TTR | Zornitza Stark Phenotypes for gene: TTR were changed from Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN to Amyloidosis, hereditary, transthyretin-related MIM#105210; Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.255 | TTR | Zornitza Stark Publications for gene: TTR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.237 | TTR | Sangavi Sivagnanasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373, 8071954, 19180884, 24101130; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.0 | TTR |
Bryony Thompson gene: TTR was added gene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN |