Hereditary spastic paraplegia
Gene: AP4E1

AP4E1 (adaptor related protein complex 4 epsilon 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000081014
EnsemblGeneIds (GRCh37): ENSG00000081014
OMIM: 607244, Gene2Phenotype
AP4E1 is in 8 panels

1 review

emma baple (Genomics England Curator)

Green List (high evidence)

Three unrelated consanguinous families with homozygous LOF mutations
Created: 6 Mar 2016, 7:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HSP; intellectual disability

Created: 6 Mar 2016, 7:46 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Spastic paraplegia 51, autosomal recessive, OMIM:613744
Hereditary spastic paraplegia 51, MONDO:0013401

OMIM

607244

Clinvar variants

Variants in AP4E1

Penetrance

Complete

Publications

Moreno-De-Luca et al. (2011)

Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401

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

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