Ataxia and cerebellar anomalies - narrow panelGene: PTRH2
New gene suggested by Genomics England clinical team memeber- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 22 Jan 2020, 11:46 a.m. | Last Modified: 22 Jan 2020, 11:46 a.m.
Panel Version: 2.0
gene: PTRH2 was added gene: PTRH2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Other Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25574476; 28328138 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease