| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Marked gene: KIF7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Classified gene: KIF7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.34 | KIF7 | Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.33 | KIF7 |
Zornitza Stark gene: KIF7 was added gene: KIF7 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 26174511; 21552264 Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome Review for gene: KIF7 was set to AMBER Added comment: Variants in KIF7 cause ciliopathies, which range in severity of structural brain malformations with hydrolethalus at the extreme end of the spectrum (one family reported). Note another report of bi-allelic variants in an individuals with a milder phenotype, more consistent with acrocallosal syndrome, who also had hydrocephalus. Sources: Expert list |
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