Hereditary Spastic Paraplegia - paediatric
Gene: AP4S1

AP4S1 (adaptor related protein complex 4 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000100478
EnsemblGeneIds (GRCh37): ENSG00000100478
OMIM: 607243, Gene2Phenotype
AP4S1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development.

More than 10 families reported and a zebrafish model.
Created: 13 Mar 2021, 2:47 a.m. | Last Modified: 13 Mar 2021, 2:47 a.m.

Panel Version: 0.165

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 52, autosomal recessive, MIM# 614067

Publications

Created: 13 Mar 2021, 2:47 a.m.
Last Modified: 13 Mar 2021, 2:47 a.m.
Panel version: 0.165

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

developmental delay
Spastic paraplegia 52, autosomal recessive, 614067
seizures

OMIM

607243

Clinvar variants

Variants in AP4S1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap4s1 has been classified as Green List (High Evidence).

13 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP4S1 were set to

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AP4S1 was added gene: AP4S1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4S1 were set to developmental delay; Spastic paraplegia 52, autosomal recessive, 614067; seizures

Hereditary Spastic Paraplegia - paediatric Gene: AP4S1