Radial dysplasia
Gene: FLNAComment 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 unknownCreated: 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.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
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 Melnick-Needles syndrome, 309350 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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
Publications for FLNA were set to 12612583
Phenotypes for FLNA were set to Melnick-Needles syndrome, 309350
This gene has been classified as Green List (High Evidence).
FLNA was created by rfoulger
FLNA was added to Radial dysplasiapanel. Sources: Other