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Mendeliome

Gene: ASCL1

Amber List (moderate evidence)

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

1 review

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, 10:09 p.m. | Last Modified: 30 Oct 2020, 10:09 p.m.
Panel Version: 0.5200

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, congenital, MIM# 209880

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, MIM# 209880
OMIM
100790
Clinvar variants
Variants in ASCL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ascl1 has been classified as Amber List (Moderate Evidence).

30 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASCL1 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880

30 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASCL1 were set to

30 Oct 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASCL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ascl1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASCL1 was added gene: ASCL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASCL1 was set to Unknown