Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37408-Loss

2p15p16.1 region (includes BCL11A) Loss
PanelMode of inheritanceDetails
4 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
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 6.13
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 3.7
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 5.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies