Intellectual disability syndromic and non-syndromic
Gene: UBTF

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

2 reviews

Chirag Patel (Genetic Health Queensland)

I don't know

3 Chinese patients with global developmental delay, intellectual disability, social challenges and dysmorphism (wide forehead, sparse eyebrows, hypertelorism, narrow palpebral fissures, single-fold eyelids, flat nasal bridge, anteverted nares, a long philtrum and a thin upper lip), but no neuroregression (but aged 1.8yrs-4.8yrs).

WES with SNV/CNV analysis showed:
-nonsense variant c.1327C>T p. (Arg443Ter) - parental segregation not possible
-de novo ~46 kb deletion at 17q21.31 containing 7 genes but UBTF as only OMIM Morbid gene
-de novo ~106kb deletion at 17q21.31 containing 10 genes but UBTF as only relevant OMIM Morbid gene (other one was SLC4A1)

Propose haploinsufficiency presents with different phenotype to CONDBA which is due to GOF variant.
Created: 7 Nov 2024, 1:02 a.m. | Last Modified: 7 Nov 2024, 1:02 a.m.

Panel Version: 0.6627

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay without neuroregression

Publications

PMID: 39366741

Created: 7 Nov 2024, 1:02 a.m.
Last Modified: 7 Nov 2024, 1:02 a.m.
Panel version: 0.6627

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 12:13 a.m. | Last Modified: 7 Jun 2021, 12:13 a.m.

Panel Version: 0.3841

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 7 Jun 2021, 12:13 a.m.
Last Modified: 7 Jun 2021, 12:13 a.m.
Panel version: 0.3841

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
MONDO:0044701
Neurodevelopmental disorder, MONDO:0700092, UBTF-related

OMIM

600673

Clinvar variants

Variants in UBTF

Penetrance

None

Publications

Panels with this gene