SIM1:Ensemblv90

single-minded family bHLH transcription factor 1
OMIM: 603128, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SIM1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • congenital obesity
  • Prader-Willi-like syndrome

Red SIM1 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Severe obesity with neurobehavioral features

Green SIM1 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.23

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • congenital obesity
  • Prader-Willi-like syndrome

Green SIM1 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • congenital obesity
  • Prader-Willi-like syndrome