Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37486-Loss

16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
developmental delay, 613444, obesity
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
developmental delay, 613444, obesity