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| Bardet Biedl syndrome v1.13 | C8orf37 | Arina Puzriakova commented on gene: C8orf37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v1.13 | C8orf37 | Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v1.7 | C8orf37 | Ivone Leong Classified gene: C8orf37 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v1.7 | C8orf37 | Ivone Leong Added comment: Comment on list classification: This gene has been promoted from Red to Amber as there are 2 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v1.7 | C8orf37 | Ivone Leong Gene: c8orf37 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v1.6 | C8orf37 | Ivone Leong Phenotypes for gene: C8orf37 were changed from Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.11 | C8orf37 | Tom Cullup reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: Heon et al 2016 PMID: 27008867, Estrada-Cuzcano et al 2012 PMID: 22177090; Phenotypes: Bardet-Biedl syndrome 21 617406, Cone-rod dystrophy 16, Retinitis pigmentosa 64 614500 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.6 | C8orf37 |
Ivone Leong Source NHS GMS was added to C8orf37. Added phenotypes Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 for gene: C8orf37 Publications for gene C8orf37 were changed from 26854863; 27008867 to 22177090; 27008867 |
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| Bardet Biedl syndrome v0.4 | C8orf37 |
Ivone Leong gene: C8orf37 was added gene: C8orf37 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 26854863; 27008867 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406 |
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