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| Additional findings_Adult v0.160 | TTR |
Bryony Thompson gene: TTR was added gene: TTR was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 35802134 Phenotypes for gene: TTR were set to Hereditary transthyretin-related amyloidosis MIM#105210 gene: TTR was marked as current diagnostic |
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| Additional findings_Adult v0.154 | RB1 |
Bryony Thompson gene: RB1 was added gene: RB1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380 gene: RB1 was marked as current diagnostic |
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| Additional findings_Adult v0.147 | RPE65 |
Zornitza Stark gene: RPE65 was added gene: RPE65 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RPE65 were set to 34012068 Phenotypes for gene: RPE65 were set to RPE-related retinopathy Review for gene: RPE65 was set to GREEN Added comment: Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease. Sources: Expert list |
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| Additional findings_Adult v0.135 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to 34012068 Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM# 604145 Review for gene: TTN was set to GREEN Added comment: Included in ACMG V3.0 SF list, risk fo sudden death with preventative interventions available. We note the difficulty in interpreting variants in this gene: truncating variants with previously established pathogenicity to be reported only. Sources: Expert list |
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| Additional findings_Adult v0.79 | RET | Zornitza Stark Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.79 | RET | Zornitza Stark Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.79 | RET | Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.78 | RET | Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.77 | RET | Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: RET was set to Unknown |
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