ISCA-46743-Gain

Panel	Reviews	Mode of inheritance	Details
Green ISCA-46743-Gain Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green ClinGen ClinGen Phenotypes Xq25 duplication syndrome, MIM#300979
Green ISCA-46743-Gain Region in Common deletion and duplication syndromes Version 0.158	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green ClinGen Phenotypes Xq25 duplication syndrome, MIM#300979

Panel

Reviews

Mode of inheritance

Details

Level 2: Neurology and neurodevelopmental disorders
Version 1.780

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Version 0.158

review

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

2 panels