Speech apraxia
Gene: UPF2EnsemblGeneIds (GRCh38): ENSG00000151461
EnsemblGeneIds (GRCh37): ENSG00000151461
OMIM: 605529, Gene2Phenotype
UPF2 is in 1 panel
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS proband with a de novo UPF2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733).
Johnson et al. (2019; PMID: 31585809) report 3 independent cases with loss-of-function UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing).
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 11:15 a.m. | Last Modified: 1 Jul 2024, 10:42 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), UPF2-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental disorder (MONDO:0700092), UPF2-related
- OMIM
- 605529
- Clinvar variants
- Variants in UPF2
- 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: upf2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: upf2 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: UPF2 was added gene: UPF2 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: UPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UPF2 were set to 32345733; 31585809 Phenotypes for gene: UPF2 were set to Neurodevelopmental disorder (MONDO:0700092), UPF2-related Review for gene: UPF2 was set to RED