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  3. BPTF
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Genetic Epilepsy

Gene: BPTF

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 30 individuals reported, mostly de novo, some inherited variants. Reported features include seizures.
Sources: Literature
Created: 5 Oct 2021, 5:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 5 Oct 2021, 5:55 a.m.

Panel version: 0.1251

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD

Publications

Created: 6 Mar 2020, 4:01 a.m.
Last Modified: 6 Mar 2020, 4:01 a.m.
Panel version: Imported from Mendeliome panel version 0.1635

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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

History Filter Activity

5 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bptf has been classified as Green List (High Evidence).

5 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bptf has been classified as Green List (High Evidence).

5 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BPTF was added gene: BPTF was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BPTF were set to 33522091; 28942966 Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Review for gene: BPTF was set to GREEN