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Intellectual disability syndromic and non-syndromic

Gene: FLNA

Green List (high evidence)

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

History Filter Activity

13 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flna has been classified as Green List (High Evidence).

13 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1, MIM# 300049

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLNA were set to

13 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLNA was added gene: FLNA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLNA was set to Unknown