ISCA-37418-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37418-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.507

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • ClinGen
Phenotypes
  • Smith-Magenis syndrome, MIM#182290

Green ISCA-37418-Loss Region in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
  • NHS GMS
Phenotypes
  • Smith-Magenis syndrome, MIM#182290

Green ISCA-37418-Loss Region in Common deletion and duplication syndromes


Version 0.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • ClinGen
Phenotypes
  • Smith-Magenis syndrome, MIM#182290