Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1137 | TCAP | Zornitza Stark Marked gene: TCAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1137 | TCAP | Zornitza Stark Gene: tcap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1137 | TCAP | Zornitza Stark Phenotypes for gene: TCAP were changed from Muscular dystrophy, limb-girdle, type 2G, 601954 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1136 | TCAP | Zornitza Stark Publications for gene: TCAP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | TCAP |
Crystle Lee changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM) PMID: 37216648: Onset range from 6-35. PMID: 25724973: Onset in teens. Wheelchair bound by 44. PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. Other similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM) PMID: 37216648: Onset range from 6-35. PMID: 25724973: Onset in teens. Wheelchair bound by 44. PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. Other similar/more severe LGMD phenotypes included in panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | TCAP |
Crystle Lee changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM) PMID: 37216648: Onset range from 6-35. PMID: 25724973: Onset in teens. Wheelchair bound by 44. PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. Other similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM) PMID: 37216648: Onset range from 6-35. PMID: 25724973: Onset in teens. Wheelchair bound by 44. PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age. Other similar/more severe LDMG phenotypes included in panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | TCAP | Crystle Lee edited their review of gene: TCAP: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.992 | TCAP | Crystle Lee reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216648, 25724973; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | TCAP |
Zornitza Stark gene: TCAP was added gene: TCAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||