Ataxia and cerebellar anomalies - narrow panelGene: CYP2U1
Ataxia is not a prominent feature of this condition as far as I can ascertain.
Created: 12 Sep 2020, 3:07 a.m. | Last Modified: 12 Sep 2020, 3:07 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 56, autosomal recessive, MIM#615030
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: CYP2U1 was added gene: CYP2U1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.