Childhood onset dystonia, chorea or related movement disorder
Gene: UBTFThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Comment on list classification: There is sufficient evidence to promote this gene to Green status at the next GMS panel updateCreated: 6 May 2021, 4:05 p.m. | Last Modified: 6 May 2021, 4:05 p.m.
Panel Version: 1.100
UBTF is associated with a relevant phenotype in OMIM and has a 'probable' disease confidence rating for 'Childhood-Onset Neurodegeneration' in Gene2Phenotype.
At least 14 unrelated cases from various ethnic backgrounds reported in literature with a childhood-onset progressive neurodegenerative disorder due to a recurrent heterozygous variant (c.628G>A, p.Glu210Lys) in UBTF. All present cognitive and motor regression, which in most cases developed into a extrapyramidal movement disorder (amongst other features), consisting of dystonia, chorea, parkinsonism, or rigidityCreated: 6 May 2021, 4:04 p.m. | Last Modified: 6 May 2021, 4:04 p.m.
Panel Version: 1.98
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
7 out of 11 unrelated cases with a recurrent de novo gain of function missense variant (p.Glu210Lys) have dystonia as a feature of the condition.
Sources: Expert listCreated: 10 Sep 2020, 9:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: UBTF.
Source Expert Review Green was added to UBTF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ubtf has been classified as Amber List (Moderate Evidence).
Publications for gene: UBTF were set to 28777933; 29300972
Tag Q2_21_rating tag was added to gene: UBTF.
Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
gene: UBTF was added gene: UBTF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBTF were set to 28777933; 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Mode of pathogenicity for gene: UBTF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: UBTF was set to GREEN gene: UBTF was marked as current diagnostic