IRF2BPL

interferon regulatory factor 2 binding protein like
OMIM: 611720
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 2.3
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: R59
Signed-off version 3.1
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 3.1
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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