BRIDGE_SPEED_NEURO_20170705
Gene: WASHC5

WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 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, 9:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

omim.org
Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 4:28 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Spastic paraplegia 8, autosomal dominant, 603563
Ritscher-Schinzel syndrome, 220210

OMIM

610657

Clinvar variants

Variants in WASHC5

Penetrance

Complete

Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

KIAA0196 was changed to WASHC5

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

KIAA0196 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created