ISCA-37431-Loss

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ISCA-37431-Loss Region in Familial Tumours Syndromes of the central & peripheral Nervous system Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.14	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb
Green ISCA-37431-Loss Region in Neurofibromatosis Type 1 Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb
Green ISCA-37431-Loss Region in Pigmentary skin disorders Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb
Green ISCA-37431-Loss Region in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb
Green ISCA-37431-Loss Region in RASopathies Level 3: RASopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.81	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb
Red ISCA-37431-Loss Region in Paediatric or syndromic cardiomyopathy Version 3.46 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NF1 MICRODELETION SYNDROME NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb