ISCA-37468-Loss

Panel	Reviews	Mode of inheritance	Details
Green ISCA-37468-Loss 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 Expert Review Green Phenotypes Chromosome Xp11.23 deletion syndrome Tags SV/CNV
Green ISCA-37468-Loss 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 ClinGen Expert Review Green Phenotypes Chromosome Xp11.23 deletion syndrome Tags SV/CNV

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