Ataxia and cerebellar anomalies - narrow panel
Gene: EBF3
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 11 unrelated cases.Created: 14 Apr 2021, 2 p.m. | Last Modified: 14 Apr 2021, 2 p.m.
Panel Version: 2.99
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Apr 2021, 1:44 p.m. | Last Modified: 14 Apr 2021, 1:44 p.m.
Panel Version: 2.98
Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.
Sources: Expert listCreated: 12 Sep 2020, 3:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: EBF3.
Source Expert Review Green was added to EBF3. Source NHS GMS was added to EBF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Gene: ebf3 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: EBF3.
gene: EBF3 was added gene: EBF3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EBF3 were set to 28017373; 28017372; 28017370; 32366537 Phenotypes for gene: EBF3 were set to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Review for gene: EBF3 was set to GREEN gene: EBF3 was marked as current diagnostic