Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37418-Loss

17p11.2 recurrent (SMS/PLS) region (includes RAI1) 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
Smith-Magenis syndrome, OMIM:182290, Smith-Magenis syndrome, MONDO:0008434
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Potocki-Lupski syndrome, hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders, Smith-Magenis syndrome, Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance, 182290, moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems, hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies, Dental abnormalities