Cerebral Palsy
Gene: AP4S1EnsemblGeneIds (GRCh38): ENSG00000100478
EnsemblGeneIds (GRCh37): ENSG00000100478
OMIM: 607243, Gene2Phenotype
AP4S1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
ID and spastic paraplegia, variants identified in individuals with cerebral palsy-like disorders.Created: 21 Jun 2021, 9:06 a.m. | Last Modified: 21 Jun 2021, 9:06 a.m.
Panel Version: 0.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 52, autosomal recessive, MIM# 614067
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Spastic paraplegia 52, autosomal recessive, MIM# 614067
- OMIM
- 607243
- Clinvar variants
- Variants in AP4S1
- 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: ap4s1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AP4S1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AP4S1 was added gene: AP4S1 was added to Cerebral Palsy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP4S1 was set to Unknown