Hereditary ataxia - adult onsetGene: SEPSECS
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.
Number of variants and patients reported in literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia type 2D, 613811
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
Source NHS GMS was added to SEPSECS.
Source Wessex and West Midlands GLH was added to SEPSECS.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SEPSECS was added gene: SEPSECS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811)