Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prepair 1000+ v1.1572 | TNNT1 | Lilian Downie Marked gene: TNNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1572 | TNNT1 | Lilian Downie Gene: tnnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1572 | TNNT1 | Lilian Downie Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355 (3) to Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355; Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1571 | TNNT1 | Lilian Downie Publications for gene: TNNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1568 | TNNT1 | Lauren Thomas reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26296490, 31604653, 10952871, 24689076; Phenotypes: Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355, Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | TNNT1 |
Zornitza Stark gene: TNNT1 was added gene: TNNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3) |