Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.50 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.49 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: DHCR7 was set to GREEN
Added comment: Reports of HPE phenotype.
Sources: Expert list