Ataxia - paediatric
Gene: UBTFEnsemblGeneIds (GRCh38): ENSG00000108312
EnsemblGeneIds (GRCh37): ENSG00000108312
OMIM: 600673, Gene2Phenotype
UBTF is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy. Recurrent de novo variant p.Glu210Lys reported in more than 10 unrelated individuals.Created: 7 Jun 2021, 12:08 a.m. | Last Modified: 7 Jun 2021, 12:08 a.m.
Panel Version: 0.7882
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Publications
Bryony Thompson (Royal Melbourne Hospital)
Paediatric ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert listCreated: 17 Jun 2020, 1:25 a.m. | Last Modified: 17 Jun 2020, 1:26 a.m.
Panel Version: 0.219
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
- MONDO:0044701
- OMIM
- 600673
- Clinvar variants
- Variants in UBTF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ubtf has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ubtf has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: UBTF was added gene: UBTF was added to Ataxia - paediatric. 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 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Review for gene: UBTF was set to GREEN