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 0.474	2 reviews	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 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green WASHC5 in Mendeliome Version 1.3499	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 0.565	0 reviews	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 1.398	1 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 1.15 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 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 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RTSC1 RITSCHER-SCHINZEL SYNDROME 1
Green WASHC5 in Fetal anomalies Version 1.465	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Ritscher-Schinzel syndrome 1, MIM# 220210 Tags founder