GDF6 gene related symptoms and diseases
All the information presented here about the GDF6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GDF6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Microphthalmia | Uncommon - Between 30% and 50% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Conductive hearing impairment | Uncommon - Between 30% and 50% cases |
| Coloboma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GDF6 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Cleft palate
- Low posterior hairline
- Hemiplegia/hemiparesis
- Limited neck range of motion
- Decreased cervical spine mobility
- Abnormal vertebral segmentation and fusion
- Cervical C2/C3 vertebral fusion
- Congenital muscular torticollis
And 125 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GDF6 gene
Here you will find a list of rare diseases related to the GDF6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEBER CONGENITAL AMAUROSIS
Alternate names
LEBER CONGENITAL AMAUROSIS Is also known as crb, amaurosis congenita of leber i, lca, amaurosis congenita of leber, retinal blindness, congenital
Description
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Most common symptoms of LEBER CONGENITAL AMAUROSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
More info about LEBER CONGENITAL AMAUROSIS
LEBER CONGENITAL AMAUROSIS 17; LCA17
Most common symptoms of LEBER CONGENITAL AMAUROSIS 17; LCA17
- Undetectable electroretinogram
More info about LEBER CONGENITAL AMAUROSIS 17; LCA17
SOURCES: OMIM
ISOLATED KLIPPEL-FEIL SYNDROME
Alternate names
ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion, klippel-feil sequence, congenital fused cervical segments, klippel-feil malformation, cervical vertebral fusion, autosomal recessive, kfs, autosomal recessive
Description
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
Most common symptoms of ISOLATED KLIPPEL-FEIL SYNDROME
- Hearing impairment
- Scoliosis
- Hypertelorism
- Sensorineural hearing impairment
- Cleft palate
More info about ISOLATED KLIPPEL-FEIL SYNDROME
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
Alternate names
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant, kfs
Description
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
Most common symptoms of KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
- Hearing impairment
- Scoliosis
- Sensorineural hearing impairment
- Cleft palate
- Macrocephaly
More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
SOURCES: OMIM
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
Most common symptoms of MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
- Nystagmus
- Visual impairment
- Microphthalmia
- Coloboma
- Iris coloboma
More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
SOURCES: OMIM
COLOBOMATOUS MICROPHTHALMIA
Alternate names
COLOBOMATOUS MICROPHTHALMIA Is also known as mac, microphthalmia, colobomatous, isolated 1, microphthalmia-anophthalmia-coloboma syndrome, microphthalmia with colobomatous cyst
Description
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
Most common symptoms of COLOBOMATOUS MICROPHTHALMIA
- Microphthalmia
- Coloboma
- Microcornea
- Anophthalmia
- Increased intraocular pressure
More info about COLOBOMATOUS MICROPHTHALMIA
MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4
Description
Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (OMIM ).
Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4
- Hearing impairment
- Pain
- Brachydactyly
- Clinodactyly
- Pes planus
More info about MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4
SOURCES: OMIM
MICROPHTHALMIA, ISOLATED 4; MCOP4
Most common symptoms of MICROPHTHALMIA, ISOLATED 4; MCOP4
- Microphthalmia
- Coloboma
- Postaxial polydactyly
- Absent testis
More info about MICROPHTHALMIA, ISOLATED 4; MCOP4
SOURCES: OMIM
Search interest in GDF6
Potential gene panels for GDF6 gene
Leber Congenital Amaurosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
More info about this panel United States.
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
GDF6 - Klippel Feil syndrome Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the GDF6 gene.
More info about this panel Switzerland.
GDF6. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GDF6 gene.
More info about this panel Spain.
Leber congenital amaurosis (NGS panel for 20 genes) Panel
Portugal.
By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel Portugal.
Klippel-Feil syndrome (sequence analysis of GDF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GDF6 gene.
More info about this panel Portugal.
Microphthalmia (NGS panel for 26 genes) Panel
Portugal.
By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Klippel-Feil Syndrome via GDF6 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GDF6 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Leber congenital amaurosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Leber congenital amaurosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panel United States.
Klippel-Feil syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Comprehensive panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome NGS panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Deletion / Duplication panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
GDF6 related Klippel-Feil Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the GDF6 gene.
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Klippel-Feil syndrome type 1, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF6 gene.
More info about this panel Germany.
Leber congenital amaurosis type 17 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF6 gene.
More info about this panel Germany.
Microphthalmia, isolated type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF6 gene.
More info about this panel Germany.
Microphthalmia, isolated type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF6 gene.
More info about this panel Germany.
Klippel-feil syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Klippel-feil syndrome panel that also includes the following genes: MYO18B GDF3 GDF6 MEOX1
More info about this panel Germany.
Microphthalmy Panel Panel
Germany.
By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Klippel-Feil Syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Klippel-Feil Syndrome that also includes the following genes: GDF3 GDF6 MEOX1 PAX1
More info about this panel Poland.
Leber Congenital Amaurosis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX CEP290
More info about this panel Estonia.
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Developmental Eye Disease panel Panel
United States.
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel United States.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Leber congenital amaurosis panel Panel
United States.
By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Invitae Microphthalmia/Anophthalmia Disorders Panel Panel
United States.
By Invitae Invitae Microphthalmia/Anophthalmia Disorders Panel that also includes the following genes: BMP4 SHH SOX2 PXDN MFRP RAX VSX2 BCOR STRA6 FOXE3
More info about this panel United States.
Invitae Leber Congenital Amaurosis Panel Panel
United States.
By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panel United States.
Klippel-Feil syndrome type 1: GDF6 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GDF6 gene.
More info about this panel Spain.
GDF6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GDF6 gene.
More info about this panel United States.
Isolated Klippel-Feil syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the GDF6 gene.
More info about this panel Spain.
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10
More info about this panel Spain.
KLIPPEL-FEIL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME that also includes the following genes: GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
KLIPPEL-FEIL SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME NGS PANEL that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
LEBER CONGENITAL AMAUROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
More info about this panel Spain.
Klippel-Feil Syndrome Type 1 , Sequencing GDF6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GDF6 gene.
More info about this panel Spain.
Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes Panel
Spain.
By Reference Laboratory Genetics Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes that also includes the following genes: GDF3 GDF6 MEOX1
More info about this panel Spain.
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP4 SIX6 SOX2 VAX1 RAX VSX2 BCOR STRA6 GDF3 GDF6
More info about this panel Spain.
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