Limb disordersGene: FLNA
Comment when marking as ready: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs. Therefore this is on the differential for radial dysplasias and seems appropriate to include. Mostly females affected, but some surviving males with de novo mutations.
Created: 11 May 2017, 12:27 p.m.
Comment on list classification: Sufficient cases for causation.
Created: 11 May 2017, 12:24 p.m.
Comment on mode of inheritance: Changed from 'other' as this option will also tier biallelic variants in females.
Created: 3 Apr 2017, 3:58 p.m.
Comment on mode of inheritance: XLD or XLR and phenotype 300244 is unknown
Created: 7 Jul 2016, 11:04 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:48 p.m.
Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Cardiac valvular dysplasia, X-linked 314400 XLR; Congenital short bowel syndrome 300048 XLR; FG syndrome 2 300321; Frontometaphyseal dysplasia 305620 XLR; Heterotopia, periventricular 300049 XLD; Heterotopia, periventricular, ED variant 300537; Intestinal pseudoobstruction, neuronal 300048 XLR; Melnick-Needles syndrome 309350 XLD; Otopalatodigital syndrome, type I 311300 XLD; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FLNA were changed from Frontometaphyseal dysplasia 305620 XLR; Melnick-Needles syndrome, 309350; Osteodysplasty Melnick Needles 309350 XLD; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120; Terminal osseous dysplasia, OMIM:300244
Ana Beleza: Tier 1
Added phenotypes Melnick-Needles syndrome, 309350 for gene: FLNA Publications for gene FLNA were changed from to 12612583
Expert Review Green was added to FLNA. Panel: Limb disorders Model 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)
London South East RGC GSTT was added to FLNA. Panel: Limb disorders
FLNA was added to Limb disorders panel. Sources: Viapath
FLNA was created by Ellen McDonagh