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  3. ASCL1
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Molecular autopsy

Gene: ASCL1

Red List (low evidence)
ASCL1 (achaete-scute family bHLH transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000139352
EnsemblGeneIds (GRCh37): ENSG00000139352
OMIM: 100790, Gene2Phenotype
ASCL1 is in 4 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • CCHS
  • Central hypoventilation syndrome, congenital, 209880
OMIM
100790
Clinvar variants
Variants in ASCL1
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ASCL1 was added gene: ASCL1 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASCL1 were set to CCHS; Central hypoventilation syndrome, congenital, 209880