EBF3

early B-cell factor 3
OMIM: 607407, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red EBF3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hypotonia, ataxia and delayed development syndrome MIM#617330
Green EBF3 in Kabuki syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 0.15	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green EBF3 in Mendeliome Version 1.2302	1 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 1.63	1 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 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 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 1.313	1 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 1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Hypotonia, ataxia, and delayed development syndrome, MIM# 617330