| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Joubert syndrome and other neurological ciliopathies v0.68 | DHCR7 | Zornitza Stark Marked gene: DHCR7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.68 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.68 | DHCR7 | Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.68 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.62 | DHCR7 |
Crystle Lee gene: DHCR7 was added gene: DHCR7 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 23059950 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome (MIM#270400) Review for gene: DHCR7 was set to AMBER Added comment: Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly PanelApp UK: Important differential diagnosis of ciliopathy Sources: Expert Review |
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