Genomics England

early B-cell factor 3

Panel	Mode of inheritance	Details
Filter panels4 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 4.40	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 3.79	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 3.122	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 5.343	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypotonia, ataxia, and delayed development syndrome OMIM:617330, hypotonia, ataxia, and delayed development syndrome MONDO:0015021