WASHC5

WASH complex subunit 5
OMIM: 610657, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green WASHC5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Literature
  • Expert Review Green
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 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WASHC5 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WASHC5 in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, 603563
  • MONDO:0011339

Green WASHC5 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • RTSC1
  • RITSCHER-SCHINZEL SYNDROME 1