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Severe Paediatric Disorders v1.159 | DCC |
Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952 https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952 https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract in relation to the condition HGPPS2 (See OMIM) there was only 1 report before, but evidence building now |
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Severe Paediatric Disorders v1.159 | DCC | Ataf Sabir commented on gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | DCC | Louise Daugherty Mode of inheritance for gene DCC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | SDCCAG8 | Louise Daugherty reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | DCC | Louise Daugherty reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SDCCAG8 | Louise Daugherty Publications for gene SDCCAG8 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | DCC | Louise Daugherty Publications for gene DCC were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SDCCAG8 | Louise Daugherty Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DCC | Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SDCCAG8 | Louise Daugherty Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DCC | Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SDCCAG8 | Louise Daugherty Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DCC | Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SDCCAG8 | Louise Daugherty Added phenotypes Bardet-Biedl syndrome 16, 615993; Senior-Loken syndrome 7, 613615 for gene: SDCCAG8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DCC | Louise Daugherty Added phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 for gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SDCCAG8 |
Louise Daugherty Mode of inheritance for gene SDCCAG8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8 |
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Severe Paediatric Disorders v0.7 | SDCCAG8 | Louise Daugherty Source Next Generation Children Project was added to SDCCAG8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DCC | Louise Daugherty Source Next Generation Children Project was added to DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SDCCAG8 |
Louise Daugherty Source Expert Review Green was added to SDCCAG8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.5 | DCC |
Louise Daugherty Source Expert Review Green was added to DCC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SDCCAG8 |
Louise Daugherty gene: SDCCAG8 was added gene: SDCCAG8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SDCCAG8 was set to |
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Severe Paediatric Disorders v0.4 | DCC |
Louise Daugherty gene: DCC was added gene: DCC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DCC was set to |