EBF3

early B-cell factor 3
OMIM: 607407, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green EBF3 in Kabuki syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 0.15	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green EBF3 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Green EBF3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Green EBF3 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypotonia, ataxia and delayed development syndrome, 617330
Green EBF3 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Hypotonia, ataxia, and delayed development syndrome OMIM:617330
Green EBF3 in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 617330