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Severe Paediatric Disorders v0.17 C1S Louise Daugherty Mode of inheritance for gene C1S was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BLOC1S6 Louise Daugherty Mode of inheritance for gene BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 BLOC1S3 Louise Daugherty Mode of inheritance for gene BLOC1S3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 C1S Louise Daugherty reviewed gene: C1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BLOC1S3 Louise Daugherty reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 C1S Louise Daugherty Publications for gene C1S were updated from to 30847515
Severe Paediatric Disorders v0.11 BLOC1S6 Louise Daugherty Publications for gene BLOC1S6 were updated from to 30847515
Severe Paediatric Disorders v0.11 BLOC1S3 Louise Daugherty Publications for gene BLOC1S3 were updated from to 30847515
Severe Paediatric Disorders v0.10 C1S Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, periodontal type, 2, 617174; C1s deficiency, 613783 for gene: C1S
Severe Paediatric Disorders v0.10 BLOC1S6 Louise Daugherty Added phenotypes ?Hermansky-pudlak syndrome 9, 614171 for gene: BLOC1S6
Severe Paediatric Disorders v0.10 BLOC1S3 Louise Daugherty Added phenotypes Hermansky-Pudlak syndrome 8, 614077 for gene: BLOC1S3
Severe Paediatric Disorders v0.9 C1S Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, periodontal type, 2, 617174; C1s deficiency, 613783 for gene: C1S
Severe Paediatric Disorders v0.9 BLOC1S6 Louise Daugherty Added phenotypes ?Hermansky-pudlak syndrome 9, 614171 for gene: BLOC1S6
Severe Paediatric Disorders v0.9 BLOC1S3 Louise Daugherty Added phenotypes Hermansky-Pudlak syndrome 8, 614077 for gene: BLOC1S3
Severe Paediatric Disorders v0.9 C1S Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, periodontal type, 2, 617174; C1s deficiency, 613783 for gene: C1S
Severe Paediatric Disorders v0.9 BLOC1S6 Louise Daugherty Added phenotypes ?Hermansky-pudlak syndrome 9, 614171 for gene: BLOC1S6
Severe Paediatric Disorders v0.9 BLOC1S3 Louise Daugherty Added phenotypes Hermansky-Pudlak syndrome 8, 614077 for gene: BLOC1S3
Severe Paediatric Disorders v0.8 C1S Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, periodontal type, 2, 617174; C1s deficiency, 613783 for gene: C1S
Severe Paediatric Disorders v0.8 BLOC1S6 Louise Daugherty Added phenotypes ?Hermansky-pudlak syndrome 9, 614171 for gene: BLOC1S6
Severe Paediatric Disorders v0.8 BLOC1S3 Louise Daugherty Added phenotypes Hermansky-Pudlak syndrome 8, 614077 for gene: BLOC1S3
Severe Paediatric Disorders v0.7 C1S Louise Daugherty Source Next Generation Children Project was added to C1S.
Severe Paediatric Disorders v0.7 BLOC1S6 Louise Daugherty Source Next Generation Children Project was added to BLOC1S6.
Severe Paediatric Disorders v0.7 BLOC1S3 Louise Daugherty Source Next Generation Children Project was added to BLOC1S3.
Severe Paediatric Disorders v0.5 C1S Louise Daugherty Source Expert Review Green was added to C1S.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 BLOC1S6 Louise Daugherty Source Expert Review Green was added to BLOC1S6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 BLOC1S3 Louise Daugherty Source Expert Review Green was added to BLOC1S3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 C1S Louise Daugherty gene: C1S was added
gene: C1S was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C1S was set to
Severe Paediatric Disorders v0.4 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: BLOC1S6 was set to
Severe Paediatric Disorders v0.4 BLOC1S3 Louise Daugherty gene: BLOC1S3 was added
gene: BLOC1S3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: BLOC1S3 was set to