WASHC5

WASH complex subunit 5
OMIM: 610657, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green WASHC5 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature ClinGen Phenotypes Ritscher-Schinzel syndrome - MIM#220210 Ventricular septal defect Atrial septal defect Tetralogy of Fallot Double outlet right ventricle Hypoplastic left heart Aortic stenosis Pulmonic stenosis
Green WASHC5 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green WASHC5 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ritscher-Schinzel syndrome 1, MIM# 220210 Spastic paraplegia 8, autosomal dominant, MIM# 603563
Green WASHC5 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red WASHC5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 8, autosomal dominant, OMIM #603563 Ritscher-Schinzel syndrome 1 OMIM #220210
Green WASHC5 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 MONDO:0011339
Red WASHC5 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RTSC1 RITSCHER-SCHINZEL SYNDROME 1
Green WASHC5 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Ritscher-Schinzel syndrome 1, MIM# 220210 Tags founder