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Skeletal dysplasia
Gene: FLNA

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:44 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FLNA; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

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.

Created: 3 Apr 2017, 3:58 p.m.

Panel version: 1.6

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

NHS GMS
Expert Review Green

Phenotypes

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

OMIM

300017

Clinvar variants

Variants in FLNA

Penetrance

Complete

Panels with this gene

History Filter Activity

12 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FLNA were changed from Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type II -304120; Otopalatodigital syndrome, type II 304120 XLD; Otopalatodigital syndrome, type I -311300; Melnick Needles syndrome 309350; Frontometaphyseal dysplasia 305620; Frontometaphyseal dysplasia 305620 XLR; Osteodysplasty Melnick Needles 309350 XLD 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

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Terminal osseous dysplasia 300244; Melnick Needles syndrome 309350; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Otopalatodigital syndrome, type I -311300 for gene: FLNA

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FLNA. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FLNA was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

9 Aug 2016, Gel status: 4