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Limb disorders

Gene: FLNA

Green List (high evidence)

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 22 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Frontometaphyseal dysplasia 305620 XLR
  • Melnick-Needles syndrome, 309350
  • Osteodysplasty Melnick Needles 309350 XLD
  • Otopalatodigital syndrome, type II 304120 XLD
  • Terminal osseous dysplasia 300244
OMIM
300017
Clinvar variants
Variants in FLNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

16 Oct 2018, Gel status: 4

Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Added phenotypes Melnick-Needles syndrome, 309350 for gene: FLNA Publications for gene FLNA were changed from to 12612583

5 Apr 2018, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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)

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FLNA. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLNA was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FLNA was created by Ellen McDonagh