Gene Symbol:
FLNA
HGNC:3754
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Definitive classifications

heterotopia, periventricular, X-linked dominant
XL
05/01/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The FLNA gene is located on the X chromosome at Xq28 and encodes the widely expressed actin-binding... Read more
FG syndrome 2
Submitted as: OMIM:300321
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
periventricular nodular heterotopia
XL
12/27/2020
Evaluated
08/16/2021
Submitted
otopalatodigital syndrome type 1
Submitted as: OMIM:311300
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
heterotopia, periventricular, X-linked dominant
Submitted as: OMIM:300049
XLD
09/18/2019
Evaluated
11/25/2020
Submitted
heterotopia, periventricular, X-linked dominant
Submitted as: OMIM:300049
XL
01/13/2021
Evaluated
03/02/2021
Submitted
frontometaphyseal dysplasia 1
Submitted as: OMIM:305620
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Submitted as: OMIM:300048
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Melnick-Needles syndrome
Submitted as: OMIM:309350
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
terminal osseous dysplasia-pigmentary defects syndrome
Submitted as: OMIM:300244
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
otopalatodigital syndrome type 2
Submitted as: OMIM:304120
XLR
07/22/2015
Evaluated
11/25/2020
Submitted

Moderate classifications

otopalatodigital syndrome type 2
Submitted as: OMIM:304120
XL
01/29/2021
Evaluated
03/31/2021
Submitted
cardiac valvular dysplasia, X-linked
Submitted as: OMIM:314400
XL
02/13/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

terminal osseous dysplasia-pigmentary defects syndrome
Submitted as: Orphanet:88630
XL
09/14/2021
Evaluated
09/14/2021
Submitted
periventricular nodular heterotopia
Submitted as: Orphanet:98892
AD
09/14/2021
Evaluated
09/14/2021
Submitted
otopalatodigital syndrome type 2
Submitted as: Orphanet:90652
XL
09/14/2021
Evaluated
09/14/2021
Submitted
otopalatodigital syndrome type 1
Submitted as: Orphanet:90650
XL
09/14/2021
Evaluated
09/14/2021
Submitted
congenital short bowel syndrome
Submitted as: Orphanet:2301
AR
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked Ehlers-Danlos syndrome
Submitted as: Orphanet:75497
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Melnick-Needles syndrome
Submitted as: Orphanet:2484
XL
09/14/2021
Evaluated
09/14/2021
Submitted
frontometaphyseal dysplasia
Submitted as: Orphanet:1826
AD
09/14/2021
Evaluated
09/14/2021
Submitted
cardiac valvular dysplasia, X-linked
Submitted as: Orphanet:555877
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

familial thoracic aortic aneurysm and aortic dissection
AD
12/22/2016
Evaluated
08/16/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.