Ataxia and cerebellar anomalies - narrow panelGene: SAR1B
Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Created: 12 Sep 2020, 7:45 a.m. | Last Modified: 12 Sep 2020, 7:45 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Chylomicron retention disease, 246700
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: SAR1B was added gene: SAR1B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease