ISCA-37434-Loss

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ISCA-37434-Loss Region in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.540	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Phenotypes Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies
Green ISCA-37434-Loss Region in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.414 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Phenotypes Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies
Green ISCA-37434-Loss Region in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.361	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Phenotypes Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies
Green ISCA-37434-Loss Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Phenotypes Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies
Green ISCA-37434-Loss Region in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.444	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen NHS GMS Phenotypes microcephaly 1p36 deletion syndrome large anterior fontanels large, late-closing anterior fontanel deep-set eyes central nervous system anomalies pointed chin heart defects poor/absent speech hypotonia brachycephaly hearing impairment 607872 growth impairment flat nose nasal bridge mental retardation seizures epicanthus microbrachycephaly posteriorly rotated, low-set, abnormal ears developmental delay distinct dysmorphic features
Green ISCA-37434-Loss Region in Common deletion and duplication syndromes Version 0.158	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies