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
periventricular nodular heterotopia
XL
12/27/2020
Evaluated
10/18/2023
Submitted
Melnick-Needles syndrome
Submitted as: OMIM:309350
XL
07/22/2015
Evaluated
09/11/2023
Submitted
otopalatodigital syndrome type 2
Submitted as: OMIM:304120
XL
09/01/2017
Evaluated
09/11/2023
Submitted
heterotopia, periventricular, X-linked dominant
Submitted as: OMIM:300049
XL
07/22/2015
Evaluated
09/11/2023
Submitted
otopalatodigital syndrome type 1
Submitted as: OMIM:311300
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Submitted as: OMIM:300048
XL
07/22/2015
Evaluated
09/11/2023
Submitted
frontometaphyseal dysplasia 1
Submitted as: OMIM:305620
XL
07/22/2015
Evaluated
09/11/2023
Submitted
heterotopia, periventricular, X-linked dominant
Submitted as: OMIM:300049
XL
01/13/2021
Evaluated
03/02/2021
Submitted
FG syndrome 2
Submitted as: OMIM:300321
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
frontometaphyseal dysplasia 1
Submitted as: OMIM:305620
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
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
terminal osseous dysplasia-pigmentary defects syndrome
Submitted as: OMIM:300244
XL
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

heterotopia, periventricular, X-linked dominant
Submitted as: OMIM:300049
XL
07/23/2023
Evaluated
11/30/2023
Submitted
otopalatodigital syndrome type 2
Submitted as: OMIM:304120
XL
04/09/2020
Evaluated
11/30/2023
Submitted
cardiac valvular dysplasia, X-linked
Submitted as: OMIM:314400
XL
09/16/2019
Evaluated
11/30/2023
Submitted
Melnick-Needles syndrome
Submitted as: OMIM:309350
XL
04/29/2023
Evaluated
11/30/2023
Submitted
intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Submitted as: OMIM:300048
XL
09/12/2019
Evaluated
11/30/2023
Submitted
terminal osseous dysplasia-pigmentary defects syndrome
Submitted as: OMIM:300244
XL
08/04/2021
Evaluated
11/30/2023
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
04/25/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

cardiac valvular dysplasia, X-linked
Submitted as: Orphanet:555877
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
terminal osseous dysplasia-pigmentary defects syndrome
Submitted as: Orphanet:88630
XL
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
congenital short bowel syndrome
Submitted as: Orphanet:2301
AR
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

Limited classifications

familial thoracic aortic aneurysm and aortic dissection
XL
12/22/2016
Evaluated
10/18/2023
Submitted

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