Structural eye disease
Gene: GDF6
Asai-Coakwell: three families plus zebrafish model; Gonzalez-Rodriguez 4 families, slavotinek one family, chassaing one family. Den Hollander four famliiesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KLIPPEL-FEIL SYNDROME 1(includes microphthalmia); Microphthalmia with coloboma6, digenic (with GDF3); Microphthalmia, isolated 4 ; 118100 ; 613703 ; 613094
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Asai-Coakwell: three families plus zebrafish model; Gonzalez-Rodriguez 4 families, slavotinek one family, chassaing one family. Den Hollander four famliiesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703; Microphthalmia, isolated 4, 613094
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to GDF6. Source Expert Review Green was added to GDF6. Mode of inheritance for gene GDF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated 4, 613094; KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703 for gene: GDF6 Publications for gene GDF6 were changed from to 17236135, 20494911, 25457163, 24033328, 21070663 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GDF6 was added gene: GDF6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GDF6 was set to Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant, 118100