Speech apraxia
Gene: SETD1BEnsemblGeneIds (GRCh38): ENSG00000139718
EnsemblGeneIds (GRCh37): ENSG00000139718
OMIM: 611055, Gene2Phenotype
SETD1B is in 5 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a de novo SETD1B missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert ReviewCreated: 28 Jun 2024, 5:28 a.m. | Last Modified: 1 Jul 2024, 8:27 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with seizures and language delay, MIM# 619000
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder with seizures and language delay, MIM# 619000
- OMIM
- 611055
- Clinvar variants
- Variants in SETD1B
- 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: setd1b has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setd1b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: SETD1B was added gene: SETD1B was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD1B were set to 36117209 Phenotypes for gene: SETD1B were set to Intellectual developmental disorder with seizures and language delay, MIM# 619000 Review for gene: SETD1B was set to RED