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Brain channelopathy v1.78 | ISCA-37468-Loss | Arina Puzriakova commented on Region: ISCA-37468-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain channelopathy v1.78 | ISCA-37468-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60. |
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Brain channelopathy v1.55 | ISCA-37468-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Brain channelopathy v1.31 | ISCA-37468-Loss |
Louise Daugherty Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Brain channelopathy. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621 Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements |