IRF2BPL

interferon regulatory factor 2 binding protein like
OMIM: 611720
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
R-numbers: R57
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurological Phenotypes
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
R-numbers: R54
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759