ISCA-37408-Loss

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green ISCA-37408-Loss Region in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) 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 Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Green ISCA-37408-Loss Region in Severe microcephaly Level 2: Neurology Version 8.43 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green ClinGen Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Green ISCA-37408-Loss Region in Paediatric motor neuronopathies Level 2: Neurology Version 3.13 Latest signed off version: v3.9 (30 Apr 2025) 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 Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Green ISCA-37408-Loss Region in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) 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, moderate to severe intellectual disability, microcephaly and renal anomalies