Ataxia and cerebellar anomalies - narrow panel

Gene: RFXANK

I don't know

Comment on list classification: As reviewed by Zornitza Stark, this gene should be rated amber with the current evidence.

Created: 30 Aug 2023, 9:49 a.m. | Last Modified: 30 Aug 2023, 9:49 a.m.

Panel Version: 4.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bare lymphocyte syndrome, type II, complementation group B, OMIM:209920

I don't know

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
Sources: Literature

Created: 11 Oct 2021, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920

Publications

• 33855173
• 23314770
• 28676232