GDF6 Chromosome 8
Growth differentiation factor 6
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What This Gene Does
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Transforming growth factor beta superfamily
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000156466
Associated Conditions (13)
Klippel-Feil syndrome 1
autosomal dominant
Isolated microphthalmia 4
Leber congenital amaurosis 17
Congenital anomaly of kidney and urinary tract
Microphthalmia
isolated
with coloboma 6
GDF6-related disorder
Retinal dystrophy
Multiple synostoses syndrome 4
Autosomal dominant Parkinson disease 8
Inborn genetic diseases
Key Variants
RS121909352
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4
Health Risk
RS121909353
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Autosomal dominant Parkinson disease 8
Health Risk
RS1224736770
Conflicting classifications of pathogenicity
Isolated microphthalmia 4, Microphthalmia, isolated
Health Risk
RS1368221807
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 6
Health Risk
RS139075817
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4
Health Risk
RS140782427
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia
Health Risk
RS1422809057
Conflicting classifications of pathogenicity
Isolated microphthalmia 4, Microphthalmia, isolated
Health Risk
RS1444302456
Conflicting classifications of pathogenicity
Isolated microphthalmia 4, Leber congenital amaurosis 17, Klippel-Feil syndrome 1
Health Risk
RS148321868
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia
Health Risk
RS368498747
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4
Health Risk
RS369859861
Conflicting classifications of pathogenicity
Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4
Health Risk
RS397514725
Conflicting classifications of pathogenicity
Leber congenital amaurosis 17, Klippel-Feil syndrome 1, autosomal dominant
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909352 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4 |
| RS121909353 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Autosomal dominant Parkinson disease 8 |
| RS1224736770 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 4, Microphthalmia, isolated |
| RS1368221807 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, isolated, with coloboma 6 |
| RS139075817 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4 |
| RS140782427 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia |
| RS1422809057 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 4, Microphthalmia, isolated |
| RS1444302456 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 4, Leber congenital amaurosis 17, Klippel-Feil syndrome 1 |
| RS148321868 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia |
| RS368498747 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4 |
| RS369859861 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4 |
| RS397514725 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 17, Klippel-Feil syndrome 1, autosomal dominant |
| RS561421783 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 17, Isolated microphthalmia 4, Klippel-Feil syndrome 1 |
| RS63751220 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia |
| RS745979763 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Isolated microphthalmia 4 |
| RS753416812 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Leber congenital amaurosis 17, Microphthalmia |
| RS757525366 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia |
| RS768532556 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Leber congenital amaurosis 17 |
| RS886043381 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, isolated, with coloboma 6 |
| RS886063208 | Health Risk | Conflicting classifications of pathogenicity | Klippel-Feil syndrome 1, autosomal dominant, Microphthalmia |
| RS888138096 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, isolated, with coloboma 6 |
| RS2130205786 | Health Risk | Likely pathogenic | Klippel-Feil syndrome 1, autosomal dominant, Klippel-Feil syndrome 1 |
| RS878853102 | Health Risk | Likely pathogenic | — |
| RS1401531865 | Health Risk | Pathogenic | Leber congenital amaurosis 17, Leber congenital amaurosis 17 |
| RS1554571213 | Health Risk | Pathogenic | Multiple synostoses syndrome 4, Multiple synostoses syndrome 4 |