Speech apraxia
Gene: BPTFEnsemblGeneIds (GRCh38): ENSG00000171634
EnsemblGeneIds (GRCh37): ENSG00000171634
OMIM: 601819, Gene2Phenotype
BPTF is in 6 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert Review, Expert listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bptf has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bptf has been classified as Red List (Low Evidence).
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