Genomics England

2p15p16.1 region (includes BCL11A) Loss

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.33	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.41	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies