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Intellectual disability

Gene: BPTF

Green List (high evidence)

BPTF (bromodomain PHD finger transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000171634
EnsemblGeneIds (GRCh37): ENSG00000171634
OMIM: 601819, Gene2Phenotype
BPTF is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Created: 17 Sep 2018, 10:57 a.m.
New gene added by external expert. From OMIM; Stankiewicz et al. 2017 (PMID: 28942966) reported 10 unrelated patients, ranging from 2 to 13 years of age, with a similar neurodevelopmental disorder. All patients had delayed psychomotor development and intellectual disability with delayed speech.
Created: 17 Sep 2018, 10:55 a.m.
Comment on phenotypes: added OMIM MIMid
Created: 17 Sep 2018, 10:53 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ten unrelated individuals with ID and de novo LoF/missense variants in this gene described in the literature (28942966)
Created: 22 Jun 2018, 10:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755
  • intellectual disability
OMIM
601819
Clinvar variants
Variants in BPTF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to BPTF.

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755; intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

BPTF was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

BPTF was created by Zornitza Stark