ISCA-37434-Loss

1p36 terminal region (includes GABRD) Loss
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872
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
posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
posteriorly rotated, low-set, abnormal ears, brachycephaly, epicanthus, heart defects, pointed chin, deep-set eyes, microcephaly, hypotonia, seizures, poor/absent speech, central nervous system anomalies, large anterior fontanels, microbrachycephaly, mental retardation, growth impairment, large, late-closing anterior fontanel, flat nose, nasal bridge, developmental delay, hearing impairment, distinct dysmorphic features, 1p36 deletion syndrome, 607872