Cerebral Palsy
Gene: PACS1
PACS1 (phosphofurin acidic cluster sorting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000175115
EnsemblGeneIds (GRCh37): ENSG00000175115
OMIM: 607492, Gene2Phenotype
PACS1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000175115
EnsemblGeneIds (GRCh37): ENSG00000175115
OMIM: 607492, Gene2Phenotype
PACS1 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals with mono-allelic variants (1 missense, 1 splice) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. PACS1 variants are associated with hypotonia starting in the new-born period which may persist throughout childhood.
Sources: LiteratureCreated: 27 May 2024, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schuurs-Hoeijmakers syndrome, MIM#615009
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Schuurs-Hoeijmakers syndrome, MIM#615009
- OMIM
- 607492
- Clinvar variants
- Variants in PACS1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pacs1 has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pacs1 has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PACS1 was added gene: PACS1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACS1 were set to PMID: 38693247 Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, MIM#615009 Review for gene: PACS1 was set to AMBER