Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-46742-Loss

7p22.1 region (includes ACTB) Loss
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes