Speech apraxia

Gene: BPTF

Red List (low evidence)

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

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Red List (low evidence)

An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert Review, Expert list
Created: 12 Sep 2024, 8:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
OMIM
601819
Clinvar variants
Variants in BPTF
Penetrance
None
Panels with this gene

History Filter Activity

12 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bptf has been classified as Red List (Low Evidence).

12 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bptf has been classified as Red List (Low Evidence).

12 Sep 2024, Gel status: 0

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

Thomas Scerri (Murdoch Children's Research Institute)

gene: BPTF was added gene: BPTF was added to Speech apraxia. Sources: Expert Review,Expert list Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 Review for gene: BPTF was set to RED