Cerebral Palsy
Gene: PGAP2EnsemblGeneIds (GRCh38): ENSG00000148985
EnsemblGeneIds (GRCh37): ENSG00000148985
OMIM: 615187, Gene2Phenotype
PGAP2 is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with homozygous missense variant and severe DD, epilepsy, axial hypotonia, dyskinetic quadriplegia, feeding difficulties.
Sources: LiteratureCreated: 2 Sep 2024, 6:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
- OMIM
- 615187
- Clinvar variants
- Variants in PGAP2
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgap2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgap2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PGAP2 was added gene: PGAP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP2 were set to PMID: 39213953 Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 Review for gene: PGAP2 was set to RED