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| Incidentalome v1.11 | TTN |
Sarah Milton Source Victorian Clinical Genetics Services was removed from TTN. Source Victorian Clinical Genetics Services was removed from TTN. Source ClinGen was added to TTN. Phenotypes for gene: TTN were changed from to Dilated cardiomyopathy 1G, MONDO:0011400; TTN-related myopathy, MONDO:0100175; Myopathy, myofibrillar, 9, with early respiratory failure, MONDO:0011362; Tibial muscular dystrophy, MONDO:0010870; TTN-related myopathy, dominant-negative TTNsv, MONDO:1060225 |
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| Incidentalome v1.10 | TTN |
Sarah Milton changed review comment from: Summary of phenotypes as per Clingen: Dilated cardiomyopathy 1G, MONDO:0011400 - Definitive association - AD - Molecular mechanism - truncating variants in exon with sufficiently high PSI, exact mechanism remains unclear - haploinsufficiency on it's own unlikely to be the only contributing factor, some papers postulate accumulation of truncated poison peptides contribute. TTN-related myopathy, MONDO:0100175 - Definitive association - AR - Lumped: limb-girdle muscular dystrophy, (MIM #608807), centronuclear myopathy, Salih myopathy (MIM #611705), Emery-Dreifuss-like muscular dystrophy (not an OMIM entity), titinopathy with congenital contractures (not an OMIM entity), minicore myopathy (not an OMIM entity), distal titinopathy - Presumably loss of function molecular mechanism, frameshift, deletion, missense, splice site variants have been called LP/P for this phenotype, PSI less relevant Myopathy, myofibrillar, 9, with early respiratory failure MONDO:0011362 - Definitive association - AD - Missense variants in exon 344 A band Tibial muscular dystrophy, MONDO:0010870 - Moderate association - AD - Variants in M line – missense and truncating exon 363 TTN-related myopathy, dominant-negative TTNsv, MONDO:1060225 - Moderate association - AD - Multiexon in frame deletion/CNV escape NMD, expressed - Located in Z disk, A,I or A/M band deletions - Phenotype ranges from arthrogryposis to adult onset distal myopathy Hypertrophic cardiomyopathy, MONDO:0005045, AD - Limited association - AD Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 - Disputed association - AD; to: Summary of phenotypes as per Clingen: Dilated cardiomyopathy 1G, MONDO:0011400 - Definitive association - AD - Molecular mechanism - truncating variants in exon with sufficiently high PSI, exact mechanism remains unclear - haploinsufficiency on it's own unlikely to be the only contributing factor, some papers postulate accumulation of truncated poison peptides contribute. TTN-related myopathy, MONDO:0100175 - Definitive association - AR - Lumped: limb-girdle muscular dystrophy, (MIM #608807), centronuclear myopathy, Salih myopathy (MIM #611705), Emery-Dreifuss-like muscular dystrophy (not an OMIM entity), titinopathy with congenital contractures (not an OMIM entity), minicore myopathy (not an OMIM entity), distal titinopathy - Presumably loss of function molecular mechanism, frameshift, deletion, missense, splice site variants have been called LP/P for this phenotype, PSI less relevant Myopathy, myofibrillar, 9, with early respiratory failure MONDO:0011362 - Definitive association - AD - Missense variants in exon 344 A band Tibial muscular dystrophy, MONDO:0010870 - Moderate association - AD - Variants in M line – missense and truncating exon 363 TTN-related myopathy, dominant-negative TTNsv, MONDO:1060225 - Moderate association - AD - Multiexon in frame deletion/CNV escape NMD, expressed - Located in Z disk, A,I or A/M band deletions - Phenotype ranges from arthrogryposis to adult onset distal myopathy Hypertrophic cardiomyopathy, MONDO:0005045, AD - Limited association - AD Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 - Disputed association - AD |
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| Incidentalome v1.10 | TTN | Sarah Milton reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v1.0 | TTN | Gene migrated from ENSG00000155657 to ENSG00000155657 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.168 | TTN | Zornitza Stark Marked gene: TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.168 | TTN | Zornitza Stark Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.168 | TTN | Zornitza Stark Publications for gene: TTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.167 | TTN | Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TTN | Zornitza Stark Tag cardiac tag was added to gene: TTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TTN |
Zornitza Stark changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for DCM and myopathy. MODERATE for tibial muscular dystrophy and myofibrillar myopathy. LIMITED for HCM and ARVC. |
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| Incidentalome v0.166 | TTN | Zornitza Stark edited their review of gene: TTN: Changed phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145, Cardiomyopathy, familial hypertrophic, 9, MIM# 613765, Tibial muscular dystrophy, tardive, MIM#600334, Salih myopathy (MIM#611705), Muscular dystrophy, limb-girdle, type 2J, 608807; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.0 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTN was set to Unknown |
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