Hereditary spastic paraplegia

Gene: AP4S1

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 52, autosomal recessive
  • developmental delay
  • seizures
OMIM
607243
Clinvar variants
Variants in AP4S1
Penetrance
Complete
Publications
  • Abou Jamra et al. (2011)
Panels with this gene

History Filter Activity

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for AP4S1 were set to Spastic paraplegia 52, autosomal recessive; developmental delay; seizures

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AP4S1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AP4S1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AP4S1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AP4S1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AP4S1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AP4S1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AP4S1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list