Hereditary Spastic Paraplegia - paediatric
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development.

More than 5 unrelated families reported.
Created: 13 Mar 2021, 9:16 a.m. | Last Modified: 13 Mar 2021, 9:16 a.m.

Panel Version: 0.167

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 51, autosomal recessive, MIM# 613744

Publications

Created: 13 Mar 2021, 9:16 a.m.
Last Modified: 13 Mar 2021, 9:16 a.m.
Panel version: 0.167

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spastic paraplegia 51, autosomal recessive, 613744

OMIM

607244

Clinvar variants

Variants in AP4E1

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: ap4e1 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: AP4E1 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: AP4E1 was added gene: AP4E1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, 613744

Hereditary Spastic Paraplegia - paediatric Gene: AP4E1