| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Multiple joint dislocations and laxity v0.1 | FLNA |
Tiong Tan Source Victorian Clinical Genetics Services was added to FLNA. Added phenotypes Otopalatodigital syndrome, type II -304120; Melnick Needles syndrome 309350; Osteodysplasty Melnick Needles 309350 XLD; Frontometaphyseal dysplasia 305620 XLR; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620 for gene: FLNA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.0 | FLNA |
Tiong Tan gene: FLNA was added gene: FLNA was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to Frontometaphyseal dysplasia 305620; Osteodysplasty Melnick Needles 309350 XLD; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type I -311300; Frontometaphyseal dysplasia 305620 XLR; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type II -304120 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||