ISCA-46303-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-46303-Loss Region in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.44

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • 46XY sex reversal 10, MIM# 616425
  • 46XX sex reversal 2, MIM# 278850
  • Pierre-Robin sequence MONDO:0009869, SOX9-related

Red ISCA-46303-Loss Region in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.312

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • ClinGen

Red ISCA-46303-Loss Region in Common deletion and duplication syndromes


Version 0.156

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen