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Severe Paediatric Disorders v0.17 DHCR7 Louise Daugherty Mode of inheritance for gene DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 DHCR7 Louise Daugherty reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 DHCR7 Louise Daugherty Publications for gene DHCR7 were updated from to 30847515
Severe Paediatric Disorders v0.10 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
Severe Paediatric Disorders v0.9 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
Severe Paediatric Disorders v0.9 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
Severe Paediatric Disorders v0.8 DHCR7 Louise Daugherty Added phenotypes Smith-Lemli-Opitz syndrome, 270400 for gene: DHCR7
Severe Paediatric Disorders v0.7 DHCR7 Louise Daugherty Source Next Generation Children Project was added to DHCR7.
Severe Paediatric Disorders v0.5 DHCR7 Louise Daugherty Source Expert Review Green was added to DHCR7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 DHCR7 Louise Daugherty gene: DHCR7 was added
gene: DHCR7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to