Angelman Rett like syndromes
Gene: UBTF

UBTF (upstream binding transcription factor, RNA polymerase I)
EnsemblGeneIds (GRCh38): ENSG00000108312
EnsemblGeneIds (GRCh37): ENSG00000108312
OMIM: 600673, Gene2Phenotype
UBTF is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.

Some phenotypic overlap with Rett syndrome given progressive course but not strong.
Created: 7 Jun 2021, 12:05 a.m. | Last Modified: 7 Jun 2021, 12:05 a.m.

Panel Version: 0.86

Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701

Publications

Created: 7 Jun 2021, 12:05 a.m.
Last Modified: 7 Jun 2021, 12:05 a.m.
Panel version: 0.86

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
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