MAP1B

microtubule associated protein 1B
OMIM: 157129, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MAP1B in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918

Green MAP1B in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918

Green MAP1B in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918
  • Deafness, autosomal dominant 83, MIM# 619808

Green MAP1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918

Green MAP1B in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Periventricular nodular heterotopia 9, MIM# 618918

Green MAP1B in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Deafness, autosomal dominant 83, MIM# 619808

Green MAP1B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Literature
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918

Green MAP1B in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polymicrogyria
  • Periventricular nodular heterotopia 9, MIM# 618918