Speech apraxia
Gene: SETD1AEnsemblGeneIds (GRCh38): ENSG00000099381
EnsemblGeneIds (GRCh37): ENSG00000099381
OMIM: 611052, Gene2Phenotype
SETD1A is in 5 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)
Kaspi et al. (2022; PMID: 36117209) report a CAS proband with a de novo SETD1A splice acceptor variant.
An independent (unpublished) in-house CAS proband has a de novo SETD1A frameshift variant.
Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).
Sources: Expert list, Expert ReviewCreated: 24 Jun 2024, 1:24 p.m. | Last Modified: 17 Jul 2024, 5:22 a.m.
Panel Version: 1.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
- OMIM
- 611052
- Clinvar variants
- Variants in SETD1A
- 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: setd1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setd1a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setd1a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: SETD1A was added gene: SETD1A was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD1A were set to 29463886; 32346159 Phenotypes for gene: SETD1A were set to Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Review for gene: SETD1A was set to GREEN