Radial dysplasia

Gene: FLNA

Green List (high evidence)

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 23 panels

4 reviews

Helen Brittain (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for FLNA were set to 12612583

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for FLNA were set to Melnick-Needles syndrome, 309350

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FLNA was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

FLNA was added to Radial dysplasiapanel. Sources: Other