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Severe Paediatric Disorders v0.12 | SPECC1L | Louise Daugherty reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SPECC1L | Louise Daugherty Publications for gene SPECC1L were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SPECC1L | Louise Daugherty Added phenotypes Opitz GBBB syndrome, type II, 145410; ?Facial clefting, oblique, 1, 600251; Hypertelorism, Teebi type, 145420 for gene: SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPECC1L | Louise Daugherty Added phenotypes Opitz GBBB syndrome, type II, 145410; ?Facial clefting, oblique, 1, 600251; Hypertelorism, Teebi type, 145420 for gene: SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SPECC1L | Louise Daugherty Added phenotypes Opitz GBBB syndrome, type II, 145410; ?Facial clefting, oblique, 1, 600251; Hypertelorism, Teebi type, 145420 for gene: SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPECC1L | Louise Daugherty Added phenotypes ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II, 145410; Hypertelorism, Teebi type, 145420 for gene: SPECC1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SPECC1L |
Louise Daugherty Mode of inheritance for gene SPECC1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Opitz GBBB syndrome, type II, 145410; ?Facial clefting, oblique, 1, 600251; Hypertelorism, Teebi type, 145420 for gene: SPECC1L |
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Severe Paediatric Disorders v0.7 | SPECC1L | Louise Daugherty Source Next Generation Children Project was added to SPECC1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SPECC1L |
Louise Daugherty Source Expert Review Green was added to SPECC1L. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SPECC1L |
Louise Daugherty gene: SPECC1L was added gene: SPECC1L was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SPECC1L was set to |