ISCA-37446-Loss

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ISCA-37446-Loss Region in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green ISCA-37446-Loss Region in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green ISCA-37446-Loss Region in Severe Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green ISCA-37446-Loss Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green ISCA-37446-Loss Region in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green ISCA-37446-Loss Region in Common deletion and duplication syndromes Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV