WASHC5

WASH complex subunit 5
OMIM: 610657, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green WASHC5 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome 1, OMIM:220210

Green WASHC5 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.257

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, OMIM:603563

Green WASHC5 in Hereditary spastic paraplegia - childhood onset


Version 2.82
Latest signed off version: v2.18 (8 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, OMIM:603563

Green WASHC5 in Hereditary spastic paraplegia - adult onset


Version 1.72
Latest signed off version: v1.27 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, OMIM:603563

Red WASHC5 in Neurodegenerative disorders - adult onset


Version 2.196
Latest signed off version: v2.178 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 8, autosomal dominant

Red WASHC5 in Fetal anomalies


Version 1.717
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Spastic paraplegia 8, autosomal dominant 603563
  • Ritscher-Schinzel syndrome 1 220210

Red WASHC5 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.415

review Not set
Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Neuropathies

Red WASHC5 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.49
Latest signed off version: v2.2 (4 Mar 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • RITSCHER-SCHINZEL SYNDROME 1
    • RTSC1

    Amber WASHC5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Amber
    Phenotypes
    • Spastic paraplegia 8, autosomal dominant, 603563
    • Ritscher-Schinzel syndrome, 220210

    Red WASHC5 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.61
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies

    Green WASHC5 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 8, autosomal dominant, 603563
    • Ritscher-Schinzel syndrome 1, 220210