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Intellectual disability

Gene: WASHC5

Amber List (moderate evidence)
WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 panels

5 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Evidence for this gene disease association includes a Caucasian family with four affected siblings, eight individuals from a first nations Canadian cohort, and a functional animal model. Individuals reported in literature with biallelic variants in WASHC5 were diagnosed with Ritscher-Schinzel syndrome, which includes intellectual disability. In addition, washc5 knockout studies in zebrafish recapitulated the human phenotype and showed disrupted nervous development. Based on available evidence, this gene should be promoted to Green for Intellectual disability.
Created: 9 Jan 2026, 4:52 p.m. | Last Modified: 13 Jan 2026, 4:52 p.m.
Panel Version: 9.236
PMID: 24065355 Elliot et al., 2013
8 patients with Ritscher-Schinzel syndrome from a first nations cohort in Canada. All homozygous for a novel splice site mutation c.3335+2T>A in WASHC5 (KIAA0196). 60% reduction in protein levels was shown in affected patients - demonstrated LoF effect.

PMID: 36130690 Neri et al., 2022
4 siblings carried compound heterozygous variants in WASHC5: c.232C>T, p.Gln78* & c.2489G>A, p.Arg830Gln. Patient 1, a 5yo live born female, and 3 fetal cases (terminated early based on elevated nuchal transluscency). Parents were confirmed as heterozygous for a variant each. All individuals presented with craniofacial dysmorphism, ID/DD, ataxic gait. Family 1: Patient 1 had severe intellectual disability. Cerebellar hypoplasia was noted on brain MRI.

Functional: PMID: 39988189 Wei et al., 2025 - washc5 knockout zebrafish showed disrupted maxillofacial, cardiovascular, and nervous development.

WASHC5 is associated with AR Ritscher-Schinzel syndrome 1, MIM:220210 and Spastic paraplegia 8, autosomal dominant, MIM:603563 (OMIM accessed 9th Jan 2025). Ritscher-Schinzel syndrome is associated with biallelic LoF variants, while Spastic paraplegia arises from GoF monoallelic variants in WASHC5.
Created: 9 Jan 2026, 4:44 p.m. | Last Modified: 13 Jan 2026, 4:47 p.m.
Panel Version: 9.236

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078

Publications

Created: 9 Jan 2026, 4:44 p.m.
Last Modified: 13 Jan 2026, 4:52 p.m.
Panel version: 9.233

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: OKay to mark as amber as only one mutation in this gene causing Ritscher-Schinzel syndrome has been described in an isolated population. Hence not enough evidence to mark it as green
Created: 5 Jan 2018, 12:03 p.m.
Created: 5 Jan 2018, 12:03 p.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.128

Olivia Niblock (Genomics England Curator)

I don't know

One paper linking variants in this gene to Ritscher_Schinzel/3C syndrome, with some of the patients exhibiting intellectual disability phenotypes (24065355). There is an additional paper linking Intellectual Disability phenotypes with Ritscher-Schinzel syndrome (24916641). However - variants in this gene also have links (as described in the literature) with Spastic paraplegia following an autosomal dominant mode of inheritance.
Created: 5 Jan 2018, 2:26 p.m.
New gene symbol: WASHC5
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 31 Oct 2017, 10:36 a.m.

Panel version: 1.564

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: 27 Jul 2017, 7:04 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:43 p.m.

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

Publications

  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 7:44 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:09 p.m.
added new-gene-name tag, new approved HGNC gene symbol is WASHC5
Created: 19 Jul 2017, 4:27 p.m.
Created: 19 Jul 2017, 4:27 p.m.

Panel version: 1.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Amber
Phenotypes
  • Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078
Tags
Q1_26_promote_green
OMIM
610657
Clinvar variants
Variants in WASHC5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Jan 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome, 220210 to Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078

9 Jan 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: WASHC5 were set to 24065355; 24916641

9 Jan 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: WASHC5.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene WASHC5 was set to ['24065355', ' 24916641 ']

5 Jan 2018, Gel status: 2

Removed Source, Added New Source, Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Source BRIDGE study SPEED NEURO Tier1 Gene was removed from WASHC5. Panel: Intellectual disability Other was added to WASHC5. Panel: Intellectual disability Model of inheritance for gene WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal

5 Jan 2018, Gel status: 2

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to WASHC5. Panel: Intellectual disability

5 Nov 2017, Gel status: 2

Changed Gene Name

GEL ()

KIAA0196 was changed to WASHC5

5 Nov 2017, Gel status: 2

Removed Tag

GEL ()

new-gene-name was removed from KIAA0196. Panel: Intellectual disability

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

KIAA0196 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

KIAA0196 was created by BRIDGE