Ataxia and cerebellar anomalies - narrow panelGene: RFXANK
PMID: 33855173 - 1 family (2 affecteds, 3rd not sequenced) with a homozygous c.271+1G>C splice variant, late-onset immunodeficiency and subacute progressive neurodegenerative disease, including cognition, motor, visual and cerebellar features. MRI demonstrated global cerebral and cerebellar atrophy.
PMID: 23314770 - 1/34 MHCII deficient patients with biallelic variants reported with ataxia. Majority of patients (including patient with ataxia) share a founder variant (c.338-25_338del26).
PMID: 28676232 - single 30 month old patient with ataxic gait and dysarthria and a homozygous PTC.
Summary: 3 patients but uncommon feature of an established immunological disorder, variable expressivity
Created: 11 Oct 2021, 9:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920
gene: RFXANK was added gene: RFXANK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFXANK were set to 33855173; 23314770; 28676232 Phenotypes for gene: RFXANK were set to Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920 Review for gene: RFXANK was set to AMBER