Research panel - Severe Paediatric Disorders
Gene: FLNA

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 28 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FLNA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiac valvular dysplasia, X-linked, 314400 (3) | Congenital short bowel syndrome, 300048 (3) | ?FG syndrome 2, 300321 (3) | Frontometaphyseal dysplasia 1, 305620 (3) | Heterotopia, periventricular, 1, 300049 (3) | Intestinal pseudoobstruction, neuronal, 300048 (3) | Melnick-Needles syndrome, 309350 (3) | Otopalatodigital syndrome, type I, 311300 (3) | Otopalatodigital syndrome, type II, 304120 (3) | Terminal osseous dysplasia, 300244 (3); Mode of inheritance: X-linked | X-linked recessive | X-linked | X-linked recessive | X-linked dominant | X-linked recessive | X-linked dominant | X-linked dominant | X-linked dominant | X-linked dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

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

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Melnick-Needles syndrome, 309350
Congenital short bowel syndrome, 300048
Terminal osseous dysplasia, 300244
Intestinal pseudoobstruction, neuronal, 300048
?FG syndrome 2, 300321
Otopalatodigital syndrome, type II, 304120
Heterotopia, periventricular, 1, 300049
Cardiac valvular dysplasia, X-linked, 314400
Frontometaphyseal dysplasia 1, 305620
Otopalatodigital syndrome, type I, 311300

OMIM

300017

Clinvar variants

Variants in FLNA

Penetrance

None

Publications

30847515

Panels with this gene