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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

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

SOURCES: ORPHANET OMIM

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GDF6 related Klippel-Feil Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the GDF6 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GDF6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GDF6 gene.

More info about this panel

Isolated Klippel-Feil syndrome type 1 Panel

Spain.

By Bioarray

This panel specifically test the GDF6 gene.

More info about this panel

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

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

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

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

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

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

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


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