Gene Symbol:
FHL1
HGNC:3702
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq26.3
Filters:

Invitae classifications

myopathy, reducing body, X-linked, early-onset, severe
Submitted as: OMIM:300717
XL
04/20/2022
Evaluated
11/30/2023
Submitted
X-linked myopathy with postural muscle atrophy
Submitted as: OMIM:300696
XL
10/05/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

reducing body myopathy
Submitted as: Orphanet:97239
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked Emery-Dreifuss muscular dystrophy
Submitted as: Orphanet:98863
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked myopathy with postural muscle atrophy
Submitted as: Orphanet:178461
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked scapuloperoneal muscular dystrophy
Submitted as: Orphanet:431272
XL
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

X-linked myopathy with postural muscle atrophy
Submitted as: OMIM:300696
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
X-linked Emery-Dreifuss muscular dystrophy
AD
04/25/2022
Evaluated
09/11/2023
Submitted
X-linked myopathy with postural muscle atrophy
Submitted as: OMIM:300696
XL
07/22/2015
Evaluated
09/11/2023
Submitted

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