| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Holoprosencephaly and septo-optic dysplasia v0.21 | SMC1A | Zornitza Stark Marked gene: SMC1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.21 | SMC1A | Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.21 | SMC1A | Zornitza Stark Classified gene: SMC1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.21 | SMC1A | Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly and septo-optic dysplasia v0.20 | SMC1A |
Zornitza Stark gene: SMC1A was added gene: SMC1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: SMC1A was set to Other Publications for gene: SMC1A were set to 31334757; 28166369 Phenotypes for gene: SMC1A were set to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Review for gene: SMC1A was set to GREEN Added comment: Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL. Sources: Literature |
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