Fetal anomalies
Gene: BPTF

BPTF (bromodomain PHD finger transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000171634
EnsemblGeneIds (GRCh37): ENSG00000171634
OMIM: 601819, Gene2Phenotype
BPTF is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.

The onset of microcephaly is post-natal, most of the other physical features are relatively mild, unclear if would be identifiable antenatally.
Created: 5 Oct 2021, 5:55 a.m. | Last Modified: 7 Dec 2021, 9:44 a.m.

Panel Version: 0.1123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755

Publications

Created: 6 Mar 2020, 9:45 a.m.
Last Modified: 7 Dec 2021, 9:44 a.m.
Panel version: 0.1123

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755

OMIM

601819

Clinvar variants

Variants in BPTF

Penetrance

None

Publications

Panels with this gene