Childhood onset dystonia, chorea or related movement disorder
Gene: NUP54
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:18 a.m. | Last Modified: 11 Oct 2023, 9:18 a.m.
Panel Version: 3.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is sufficient evidence (3 unrelated cases) for rating this gene as GREEN in the next GMS review.Created: 1 Jun 2023, 8:13 p.m. | Last Modified: 1 Jun 2023, 8:13 p.m.
Panel Version: 3.11
PMID:36333996 reported three unrelated patients with early-onset dystonia with striatal lesions identified with biallelic variants in NUP54 gene. One patient (patient A) had homozygous variant c.1073T>G (p.Ile358Ser), while other two patients had compound heterozygous variants (patient B: c.1073T>G (p.Ile358Ser) & c.1126A>G (p.Lys376Glu); patient C: c.1410_1412del (p.Gln471del) and two missense variants c.1414G>A (p.Glu472Lys) & c.1420C>T (p.Leu474Phe)).
The age of onset was between 12 months and five years and all had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia.
Western blots showed reduced expression of NUP54 and its interaction partners NUP62/NUP58 in patient fibroblasts.
This gene has been associated with relevant phenotypes in Gene2Phenotype (NUP54-related early-onset dystonia with striatal lesions with 'moderate' rating in the DD panel), but not in OMIM.
Sources: LiteratureCreated: 1 Jun 2023, 8:12 p.m. | Last Modified: 1 Jun 2023, 8:15 p.m.
Panel Version: 3.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-onset dystonia
Publications
Tag Q2_23_promote_green was removed from gene: NUP54.
Source NHS GMS was added to NUP54. Source Expert Review Green was added to NUP54. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: nup54 has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: NUP54.
gene: NUP54 was added gene: NUP54 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP54 were set to 36333996 Phenotypes for gene: NUP54 were set to Early-onset dystonia Review for gene: NUP54 was set to GREEN