ASCL1

achaete-scute family bHLH transcription factor 1
OMIM: 100790, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber ASCL1 in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880

Amber ASCL1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880

Amber ASCL1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880

Red ASCL1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Congenital central hypoventilation

Red ASCL1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Congenital central hypoventilation