Interstitial Lung Disease
Gene: ASCL1

ASCL1 (achaete-scute family bHLH transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000139352
EnsemblGeneIds (GRCh37): ENSG00000139352
OMIM: 100790, Gene2Phenotype
ASCL1 is in 5 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

I don't know

Two unrelated families reported with supporting functional data.
Created: 29 Oct 2021, 4:14 a.m. | Last Modified: 29 Oct 2021, 4:14 a.m.

Panel Version: 0.135

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM# Congenital central hypoventilation syndrome; Neonatal respiratory distress syndrome

Publications

PMID: 14532329

Created: 29 Oct 2021, 4:14 a.m.
Last Modified: 29 Oct 2021, 4:14 a.m.
Panel version: 0.135

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals reported in 2003, none since. One of the individuals had a missense variant but also a PolyA expansion in PHOX2B. The remaining two individuals had changes in the PolyA tract of ASCL1, which may not be tractable by all NGS assays.
Created: 30 Oct 2020, 10:06 p.m. | Last Modified: 30 Oct 2020, 10:06 p.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, congenital, MIM# 209880

Publications

14532329

Created: 30 Oct 2020, 10:06 p.m.
Last Modified: 30 Oct 2020, 10:06 p.m.
Panel version: Imported from Central Hypoventilation panel version 0.6

Details

Mode of Inheritance

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

OMIM

100790

Clinvar variants

Variants in ASCL1

Penetrance

None

Publications

14532329

Panels with this gene