Macrocephaly_Megalencephaly
Gene: PAK1EnsemblGeneIds (GRCh38): ENSG00000149269
EnsemblGeneIds (GRCh37): ENSG00000149269
OMIM: 602590, Gene2Phenotype
PAK1 is in 5 panels
1 review
Lauren Rogers (Victorian Clinical Genetics Services)
PMID 37820543: 9/10 individuals had head circumferences at least greater than the 95th percentile in individuals with severe neurodevelopmental disorder. All missense variants
Sources: LiteratureCreated: 2 Nov 2023, 1:42 a.m. | Last Modified: 2 Nov 2023, 1:45 a.m.
Panel Version: 0.135
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158)
- OMIM
- 602590
- Clinvar variants
- Variants in PAK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: pak1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: pak1 has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauren Rogers (Victorian Clinical Genetics Services)gene: PAK1 was added gene: PAK1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 37820543 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM#618158) Review for gene: PAK1 was set to GREEN