BCAS3

BCAS3 microtubule associated cell migration factor
OMIM: 607470, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green BCAS3 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Neurodegeneration with brain iron accumulation


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641

Green BCAS3 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Hengel-Maroofian-Schols syndrome, MIM# 619641