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Prepair 1000+ v1.2146 TTN Seb Lunke Tag for review was removed from gene: TTN.
Prepair 1000+ v1.2118 TTN Zornitza Stark Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) to TTN-related myopathy MONDO:0100175
Prepair 1000+ v1.2116 TTN Zornitza Stark Publications for gene: TTN were set to
Prepair 1000+ v1.2115 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Prepair 1000+ v1.2115 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.2114 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1596 TTN Zornitza Stark Tag for review tag was added to gene: TTN.
Prepair 1000+ v1.1568 TTN Andrew Coventry reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145747, 17444505, 3975875, 24105469, 24395473, 25772186, 26392295, 26581302, 27796757, 28040389, 29575618, 29691892, 31660661; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1425 RTTN Zornitza Stark Marked gene: RTTN as ready
Prepair 1000+ v1.1425 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1425 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from Polymicrogyria with seizures, 614833 (3) to Microcephaly, short stature, and polymicrogyria with seizures MIM#614833
Prepair 1000+ v1.1424 RTTN Zornitza Stark Publications for gene: RTTN were set to
Prepair 1000+ v1.1397 RTTN Marta Cifuentes Ochoa reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067, 30121372, 29967526, 38178912; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures MIM#614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 TTN Zornitza Stark Marked gene: TTN as ready
Prepair 1000+ v0.49 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.49 TTN Zornitza Stark Classified gene: TTN as Amber List (moderate evidence)
Prepair 1000+ v0.49 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.40 TTN Crystle Lee reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1G (MIM#604145), Cardiomyopathy, familial hypertrophic, 9 (MIM#613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807), Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689), Salih myopathy (MIM#611705), Tibial muscular dystrophy, tardive (MIM#600334); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Prepair 1000+ v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)