Craniosynostosis

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Fennell et al summarise 6 cases (3 female, 3 male) with CSS, OPD spectrum disorder and FLNA variants - 5 had MSS. Rare complication. LOF/fs associated with non-skeletal phenotypes, eg PVNH ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 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
frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment on mode of pathogenicity: Definite but low frequency association of various type A filaminopathies with gain-of-function pathophysiology (loss of function associated with periventricular nodular heterotopia)
Created: 1 Feb 2016, 11:09 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Definite but low frequency association of various type A filaminopathies with gain-of-function pathophysiology (loss of function associated with periventricular nodular heterotopia)
Created: 14 Sep 2015, 12:06 p.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
frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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
  • Expert list
Phenotypes
  • frontometaphyseal dysplasia
  • oto-palato-digital syndromes
  • melnick-needles syndrome
OMIM
300017
Clinvar variants
Variants in FLNA
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

5 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)

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for FLNA were set to frontometaphyseal dysplasia; oto-palato-digital syndromes; melnick-needles syndrome

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for FLNA were set to 25873011

1 Feb 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for FLNA was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for FLNA was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (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)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

FLNA was added to Craniosynostosis syndromespanel. Sources: Expert list