Hereditary spastic paraplegia
Gene: AP4B1

AP4B1 (adaptor related protein complex 4 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 10 panels

1 review

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex HSP

Created: 6 Mar 2016, 7:41 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 47, autosomal recessive, OMIM:614066
Hereditary spastic paraplegia 47, MONDO:0013551

OMIM

607245

Clinvar variants

Variants in AP4B1

Penetrance

Complete

Publications

Abou Jamra et al. (2011) i

Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551

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