AMOT:Ensemblv90

angiomotin
OMIM: 300410, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red AMOT in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.132

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital hydrocephalus MONDO:0016349, AMOT-related

Red AMOT in Mendeliome


Version 1.3802

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital hydrocephalus MONDO:0016349, AMOT-related

Red AMOT in Fetal anomalies


Version 1.482

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital hydrocephalus MONDO:0016349, AMOT-related

Red AMOT in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Congenital hydrocephalus MONDO:0016349, AMOT-related