FHL1 Chromosome X
Four and a half LIM domains 1
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What This Gene Does
This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
LIM domain containing
Locus Type
gene with protein product
Location
Xq26.3
Ensembl
ENSG00000022267
Associated Conditions (21)
X-linked myopathy with postural muscle atrophy
Cardiovascular phenotype
FHL1-related disorder
Abnormality of the musculature
X-linked scapuloperoneal muscular dystrophy
Uruguay Faciocardiomusculoskeletal syndrome
Myopathy
reducing body
X-linked
childhood-onset
early-onset
severe
Primary familial hypertrophic cardiomyopathy
Asymmetric septal hypertrophy
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Centronuclear myopathy
Emery-Dreifuss muscular dystrophy 6
+1 more conditions
Key Variants
RS11557264
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy
Health Risk
RS1313810606
Conflicting classifications of pathogenicity
Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
Health Risk
RS139402062
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, FHL1-related disorder
Health Risk
RS146125558
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy
Health Risk
RS1484795726
Conflicting classifications of pathogenicity
Abnormality of the musculature, Abnormality of the musculature
Health Risk
RS151315725
Conflicting classifications of pathogenicity
Health Risk
RS1556639109
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
Health Risk
RS1603273609
Conflicting classifications of pathogenicity
X-linked scapuloperoneal muscular dystrophy, X-linked scapuloperoneal muscular dystrophy
Health Risk
RS190006104
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy
Health Risk
RS2073859427
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
Health Risk
RS2073964376
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, Uruguay Faciocardiomusculoskeletal syndrome
Health Risk
RS367592190
Conflicting classifications of pathogenicity
X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
Health Risk
All Variants (101)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11557264 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS1313810606 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype |
| RS139402062 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, FHL1-related disorder |
| RS146125558 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS1484795726 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of the musculature, Abnormality of the musculature |
| RS151315725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1556639109 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS1603273609 | Health Risk | Conflicting classifications of pathogenicity | X-linked scapuloperoneal muscular dystrophy, X-linked scapuloperoneal muscular dystrophy |
| RS190006104 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS2073859427 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS2073964376 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, Uruguay Faciocardiomusculoskeletal syndrome |
| RS367592190 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS374867802 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS746834335 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked scapuloperoneal muscular dystrophy |
| RS747594885 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS747714932 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS755900253 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS758552293 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS760214177 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS761300463 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS763012291 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS768142579 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype |
| RS768705041 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS869025431 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype |
| RS886043219 | Health Risk | Conflicting classifications of pathogenicity | X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy |
| RS1064795702 | Health Risk | Likely pathogenic | — |
| RS122458145 | Health Risk | Likely pathogenic | Myopathy, reducing body, X-linked |
| RS145445372 | Health Risk | Likely pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS1556639771 | Health Risk | Likely pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS1603271659 | Health Risk | Likely pathogenic | Myopathy, reducing body, X-linked |
| RS1603273685 | Health Risk | Likely pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS2073915687 | Health Risk | Likely pathogenic | Asymmetric septal hypertrophy, Asymmetric septal hypertrophy |
| RS2148373642 | Health Risk | Likely pathogenic | Myopathy, reducing body, X-linked |
| RS2148373814 | Health Risk | Likely pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS2148375467 | Health Risk | Likely pathogenic | X-linked myopathy with postural muscle atrophy, Nonpapillary renal cell carcinoma, X-linked myopathy with postural muscle atrophy |
| RS2521246350 | Health Risk | Likely pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS2521300616 | Health Risk | Likely pathogenic | Myopathy, reducing body, X-linked |
| RS1060502840 | Health Risk | Pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS1191211949 | Health Risk | Pathogenic | X-linked myopathy with postural muscle atrophy, Myopathy, reducing body |
| RS122458140 | Health Risk | Pathogenic | X-linked scapuloperoneal muscular dystrophy, X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS122458142 | Health Risk | Pathogenic | Myopathy, reducing body, X-linked |
| RS122458143 | Health Risk | Pathogenic | Myopathy, reducing body, X-linked |
| RS122458144 | Health Risk | Pathogenic | Myopathy, reducing body, X-linked |
| RS122459146 | Health Risk | Pathogenic | Myopathy, reducing body, X-linked |
| RS122459147 | Health Risk | Pathogenic | Myopathy, reducing body, X-linked |
| RS122459148 | Health Risk | Pathogenic | Emery-Dreifuss muscular dystrophy 6, Emery-Dreifuss muscular dystrophy 6 |
| RS122459149 | Health Risk | Pathogenic | Emery-Dreifuss muscular dystrophy 6, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy 6 |
| RS1414530313 | Health Risk | Pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS1556638935 | Health Risk | Pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |
| RS1556639151 | Health Risk | Pathogenic | X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy |