ISCA-37404-Loss

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ISCA-37404-Loss Region in Severe early-onset obesity Level 3: Obesity syndromes Level 2: Endocrine disorders Version 4.10 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105835
Green ISCA-37404-Loss Region in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness 176270 105833 Angelman syndrome Prader-Willi syndrome Mental retardation
Green ISCA-37404-Loss Region in Ataxia and cerebellar anomalies - narrow panel Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness 176270 105831 Angelman syndrome Prader-Willi syndrome Mental retardation
Green ISCA-37404-Loss Region in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105831
No list ISCA-37404-Loss Region in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed NHS GMS London North GLH Phenotypes 105831 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome Tags curated_removed
Green ISCA-37404-Loss Region in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly 105833 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome
Green ISCA-37404-Loss Region in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (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 NHS GMS Expert Review Green ClinGen Phenotypes microcephaly 105832 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome
Green ISCA-37404-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 microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830
Green ISCA-37404-Loss Region in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes 105831 Angelman syndrome Developmental delay, muscle weakness Mental retardation 176270 microcephaly Prader-Willi syndrome
Amber ISCA-37404-Loss Region in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 2.18 Latest signed off version: v2.2 (25 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber ClinGen Phenotypes microcephaly 105834 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome