Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37396-Loss

15q24 recurrent region (A-D) (includes SIN3A) 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
Chromosome 15q24 deletion syndrome, 613406, PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology, developmental delay, severe speech problems, PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features, PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 15q24 deletion syndrome, 613406, PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology, developmental delay, severe speech problems, PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features, PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia