| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autism v0.131 | CLCN4 | Zornitza Stark Marked gene: CLCN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.131 | CLCN4 | Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.131 | CLCN4 | Zornitza Stark Phenotypes for gene: CLCN4 were changed from autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar to Raynaud-Claes syndrome, MIM# 300114; autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.130 | CLCN4 | Zornitza Stark Classified gene: CLCN4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.130 | CLCN4 | Zornitza Stark Gene: clcn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.129 | CLCN4 |
Elizabeth Palmer gene: CLCN4 was added gene: CLCN4 was added to Autism. Sources: Literature Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CLCN4 were set to PMID: 27550844 Phenotypes for gene: CLCN4 were set to autism; intellectual disability; hypoplasia or agenesis of the corpus callosum; bipolar Penetrance for gene: CLCN4 were set to Complete Review for gene: CLCN4 was set to GREEN gene: CLCN4 was marked as current diagnostic Added comment: In PMID: 27550844 significant behavioral or mental health issues were noted in 19 (66%) males: hetero-aggressive behavior was reported in 8 males, auto-aggressive behavior in 3 males, repetitive autistic or obsessive–compulsive like behaviors in 7 males and hyperactivity in 3 males. Sources: Literature |
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