IRF2BPL

interferon regulatory factor 2 binding protein like
OMIM: 611720
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, Global developmental delay, Developmental regression, Seizures, Ataxia