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| Structural eye disease v0.76 | GDF6 | Nicola Ragge reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), Microphthalmia with coloboma6, digenic (with GDF3), Microphthalmia, isolated 4 , 118100 , 613703 , 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | GDF6 | Ivone Leong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100, Microphthalmia with coloboma 6, digenic (with GDF3), 613703, Microphthalmia, isolated 4, 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | GDF6 |
Ivone Leong 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) |
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| Structural eye disease v0.2 | GDF6 |
Ellen McDonagh 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 |
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