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  2. Deafness and congenital structural abnormalities
  3. GDF6
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Deafness and congenital structural abnormalities

Gene: GDF6

Amber List (moderate evidence)
GDF6 (growth differentiation factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 11 panels

6 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Different phenotype
Created: 17 Oct 2016, 12:37 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Mode of pathogenicity
Other

Created: 17 Oct 2016, 12:37 p.m.

Panel version: 0.115

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as confirmed Developmental Disorder Genes / G2P for Klippel-Feil syndrome 1, autosomal dominant 118100 and Microphthalmia, isolated 4 613094. At least four variants reported Klippel-Feil syndrome 1, autosomal dominant 118100.
Created: 19 Sep 2016, 12:43 p.m.
Comment on mode of inheritance: Phenotype Leber congenital amaurosis 17 615360 is biallelic and the MOI has not been reported for the other phenotypes
Created: 19 Sep 2016, 10:24 a.m.
Comment on phenotypes: Also associated with Leber congenital amaurosis 17 615360, Microphthalmia with coloboma 6, digenic 613703 and Microphthalmia, isolated 4 613094
Created: 15 Sep 2016, 9:19 a.m.
Created: 15 Sep 2016, 9:19 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.97

Ana Beleza (Bristol Regional Genetics Service)

I don't know

Phenotypes
Klippel-Feil syndrome 1, autosomal dominant; Leber congenital amaurosis; Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Sep 2016, 9:20 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.33

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Familial hemifacial microsomia (Version 0.148) gene panel which was combined to create this panel, though expert review from this panel was unsure regarding the rating.
Created: 14 Oct 2016, 1:20 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:58 p.m.
Created: 12 Sep 2016, 2:58 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.82

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#118100:Klippel-Feil syndrome 1, autosomal dominant [Facial asymmetry; Hearing loss, sensorineural; Hearing loss, conductive; Cleft palate; Short neck; Limited neck range of motion; Sprengel anomaly (); Fusion of cervical vertebrae, most often C2-3; Scoliosis; Low posterior hairline]; #613094:Microphthalmia, isolated 4 [; <omim version=1.0>; <clinicalSynopsisList>]; #613703:Microphthalmia with coloboma 6, digenic [; <omim version=1.0>; <clinicalSynopsisList>]; #615360:Leber congenital amaurosis 17 [Vision limited to detection of hand motion; Extinguished responses on electroretinography]

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 3 Feb 2016, 5:17 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Klippel-Feil syndrome 1, autosomal dominant 118100
OMIM
601147
Clinvar variants
Variants in GDF6
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

GDF6 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services GDF6 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen GDF6 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green Model of inheritance for gene GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GDF6 was created by sleigh

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GDF6 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red