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  2. Familial pulmonary fibrosis
  3. ASCL1
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Familial pulmonary fibrosis

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

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

Associated with Central hypoventilation syndrome, not fibrosis
Created: 26 Apr 2017, 9:46 a.m.
Created: 26 Apr 2017, 9:46 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Comment when marking as ready: Central hypoventilation rather than fibrosis so incorrect phenotype
Created: 8 Feb 2017, 7:12 p.m.
Created: 8 Feb 2017, 7:12 p.m.

Panel version: 0.43

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Central hypoventilation syndrome, congenital
OMIM
100790
Clinvar variants
Variants in ASCL1
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ASCL1 were set to Central hypoventilation syndrome, congenital

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ASCL1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ASCL1 was created by ellenmcdonagh