Speech apraxia
Gene: BRPF1EnsemblGeneIds (GRCh38): ENSG00000156983
EnsemblGeneIds (GRCh37): ENSG00000156983
OMIM: 602410, Gene2Phenotype
BRPF1 is in 5 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a de novo BRPF1 missense variant (Kaspi et al., 2022; PMID: 36117209).
Yan et al. (2017; PMID: 27939640) reported 10 independent cases with de novo or inherited BRPF1 variants and with a range of speech and language deficits, including one proband with speech apraxia (proband 4, Table S1).
Morison et al. (2024; PMID: 38346666) report 15 new cases with mostly de novo BRPF1 variants and a range of speech deficits, including 3 specifically with speech apraxia.
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 12:27 p.m. | Last Modified: 1 Jul 2024, 8:58 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
- OMIM
- 602410
- Clinvar variants
- Variants in BRPF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brpf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brpf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: BRPF1 was added gene: BRPF1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRPF1 were set to 36117209; 27939640; 38346666 Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 Review for gene: BRPF1 was set to GREEN