ISCA-37446-Loss

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ISCA-37446-Loss Region in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen 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 2.47 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green ISCA-37446-Loss Region in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.11 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Expert Review Green 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 2.6 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen 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 2.161	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen 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 1.57	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen 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 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV