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Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 5 Oct 2021, 5:55 a.m. | Last Modified: 5 Oct 2021, 5:55 a.m.
Panel Version: 0.4179

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

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

History Filter Activity

5 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BPTF were set to 28942966; 33522091

5 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BPTF were set to 28942966

6 Mar 2020, 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).

6 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755

6 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BPTF were set to

6 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BPTF was added gene: BPTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BPTF was set to Unknown