Speech apraxia
Gene: ZBTB18EnsemblGeneIds (GRCh38): ENSG00000179456
EnsemblGeneIds (GRCh37): ENSG00000179456
OMIM: 608433, Gene2Phenotype
ZBTB18 is in 8 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with an de novo ZBTB18 nonsense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert ReviewCreated: 28 Jun 2024, 6:07 a.m. | Last Modified: 1 Jul 2024, 11:14 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 22, MIM# 612337
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 22, MIM# 612337
- OMIM
- 608433
- Clinvar variants
- Variants in ZBTB18
- 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: zbtb18 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zbtb18 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: ZBTB18 was added gene: ZBTB18 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB18 were set to 36117209 Phenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM# 612337 Review for gene: ZBTB18 was set to RED