Genomics England
GMS Panels
Panels
Genes and Entities

EBF3

early B-cell factor 3
OMIM: 607407
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, and delayed development syndrome OMIM:617330, hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypotonia, ataxia, and delayed development syndrome OMIM:617330, hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypotonia, ataxia, and delayed development syndrome OMIM:617330, hypotonia, ataxia, and delayed development syndrome MONDO:0015021
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
Hypotonia, ataxia, and delayed development syndrome OMIM:617330, hypotonia, ataxia, and delayed development syndrome MONDO:0015021