Intellectual disability syndromic and non-syndromic
Gene: FLNA

FLNA (filamin A)
EnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 32 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well-established gene-disease association. Classified as DEFINITIVE by ClinGen ID and autism GCEP on 27/12/2020.

ID/DD has been reported in some individuals. The majority of the affected individuals are females while affected males are prenatally or neonatally lethal.

Loss-of-function variants in the FLNA gene lead to periventricular nodular heterotopia, gain-of-function variants cause X-linked otopalatodigital spectrum disorders (https://www.ncbi.nlm.nih.gov/books/NBK1393/)
Created: 13 May 2024, 6:55 a.m. | Last Modified: 13 May 2024, 6:55 a.m.

Panel Version: 0.5798

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
periventricular nodular heterotopia MONDO:0020341

Publications

https://search.clinicalgenome.org/CCID:004863

Created: 13 May 2024, 6:55 a.m.
Last Modified: 13 May 2024, 6:55 a.m.
Panel version: 0.5798

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
Genetic Health Queensland

Phenotypes

Heterotopia, periventricular, 1, MIM# 300049

OMIM

300017

Clinvar variants

Variants in FLNA

Penetrance

None

Publications

https://search.clinicalgenome.org/CCID:004863

Panels with this gene