Hereditary ataxia with onset in adulthood
Gene: EBF3
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset of ataxia in Hypotonia, ataxia, and delayed development syndrome OMIM:617330.Created: 19 May 2021, 11:44 a.m. | Last Modified: 26 May 2021, 7:41 a.m.
Panel Version: 2.57
This is a paediatric onset disorder.Created: 12 Sep 2020, 3:25 a.m. | Last Modified: 12 Sep 2020, 3:25 a.m.
Panel Version: 2.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in literature - loss of function seems to be main mechanismCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia and delayed development syndrome, 617330
Tag Q2_21_phenotype was removed from gene: EBF3.
Source Expert Review Amber was added to EBF3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_expert_review was removed from gene: EBF3.
Tag Q2_21_phenotype tag was added to gene: EBF3. Tag Q2_21_expert_review tag was added to gene: EBF3.
Publications for gene: EBF3 were set to
Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia and delayed development syndrome, 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Mode of inheritance for gene: EBF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ebf3 has been classified as Green List (High Evidence).
Added phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 for gene: EBF3
Source NHS GMS was added to EBF3.
gene: EBF3 was added gene: EBF3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EBF3 was set to