BRIDGE_SPEED_NEURO_20170705
Gene: AP5Z1

AP5Z1 (adaptor related protein complex 5 zeta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000242802
EnsemblGeneIds (GRCh37): ENSG00000242802
OMIM: 613653, Gene2Phenotype
AP5Z1 is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 28 Jul 2017, 8:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

omim.org
Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 1:15 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Spastic paraplegia 48, autosomal recessive, 613647

OMIM

613653

Clinvar variants

Variants in AP5Z1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

AP5Z1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created