Deafness and congenital structural abnormalities
Gene: GDF6
Different phenotypeCreated: 17 Oct 2016, 12:37 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity
Other
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 phenotypesCreated: 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 613094Created: 15 Sep 2016, 9:19 a.m.
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
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.
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
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.
This gene has been classified as Amber List (Moderate Evidence).
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
GDF6 was created by sleigh
GDF6 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red