GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FLNA
Filamin group and related disorder gp of SD - many cases reported with missense variants or in-frame dels, often recurrent (eg c.5217G>A in TOD, exon 22 variants in MNS). Other disorders associated with this gene include - cardiac valvular dysplasia - 314400, PVNH - 300049 and neuronal intestinal pseudoobstruction (3000048). LOF/fs associated with non-skeletal phenotypes, eg PVNH; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Melnick Needles syndrome 309350; Otopalatodigital syndrome, type I -311300; Otopalatodigital syndrome, type II -304120; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
gene: FLNA was added gene: FLNA was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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 Terminal osseous dysplasia 300244; Melnick Needles syndrome 309350; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Otopalatodigital syndrome, type I -311300