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Mendeliome

Gene: ASTE1

Red List (low evidence)

ASTE1 (asteroid homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000034533
EnsemblGeneIds (GRCh37): ENSG00000034533
ASTE1 is in 1 panel

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

Single report of a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop) with palmar/plantar fibromatosis. A novel, heterozygous missense variant (c.230T>C, p.Val77Ala) in the Asteroid Homolog 1 (ASTE1) gene was identified as a potential risk factor in fibrotic disease (PMID: 29104234).
Created: 25 Nov 2020, 1:40 a.m. | Last Modified: 25 Nov 2020, 1:40 a.m.
Panel Version: 0.5431

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
palmar and plantar fibromatosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • palmar and plantar fibromatosis
Clinvar variants
Variants in ASTE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aste1 has been classified as Red List (Low Evidence).

25 Nov 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASTE1 were changed from to palmar and plantar fibromatosis

25 Nov 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASTE1 were set to

25 Nov 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASTE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aste1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASTE1 was added gene: ASTE1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASTE1 was set to Unknown