WASHC5

WASH complex subunit 5
OMIM: 610657, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green WASHC5 in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	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 1.311	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
Red WASHC5 in Childhood onset hereditary spastic paraplegia Version 4.42 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM:603563
Green WASHC5 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	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 Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 3.155 Latest signed off version: v3.0 (22 Mar 2023)	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
Green WASHC5 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210
Red WASHC5 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	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 4.108 Latest signed off version: v4.0 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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 1.184	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