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  3. ASPRV1
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Ichthyosis and erythrokeratoderma

Gene: ASPRV1

Green List (high evidence)
ASPRV1 (aspartic peptidase retroviral like 1)
EnsemblGeneIds (GRCh38): ENSG00000244617
EnsemblGeneIds (GRCh37): ENSG00000244617
OMIM: 611765, Gene2Phenotype
ASPRV1 is in 1 panel

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 12:31 p.m. | Last Modified: 9 Mar 2022, 12:31 p.m.
Panel Version: 1.71
Created: 9 Mar 2022, 12:31 p.m.
Last Modified: 9 Mar 2022, 12:31 p.m.
Panel version: 1.71

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT

Publications

Created: 21 Oct 2021, 4:10 p.m.
Last Modified: 21 Oct 2021, 4:10 p.m.
Panel version: 1.68

Catherine Snow (Genomics England)

Green List (high evidence)

Curated in OMIM #146750
Variants reported are missense but k/o mouse model supports phenotype and variants are clustered together in active site in 3D model of protein.
Created: 26 May 2021, 5:42 p.m. | Last Modified: 26 May 2021, 5:42 p.m.
Panel Version: 1.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ichthyosis, lamellar, autosomal dominant, OMIM #146750

Publications

Created: 26 May 2021, 5:42 p.m.
Last Modified: 26 May 2021, 5:42 p.m.
Panel version: 1.60

Zornitza Stark (Australian Genomics)

Green List (high evidence)

-3 heterozygous missense variants identified across 4 unrelated kindreds
-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing
Sources: Literature
Created: 6 Jul 2020, 7:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
palmoplantar keratoderma; lamellar ichthyosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jul 2020, 7:48 a.m.

Panel version: 1.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, OMIM:146750
OMIM
611765
Clinvar variants
Variants in ASPRV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ASPRV1. Tag Q4_21_NHS_review was removed from gene: ASPRV1.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ASPRV1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: ASPRV1.

10 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: asprv1 has been classified as Amber List (Moderate Evidence).

10 Aug 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ASPRV1 were changed from palmoplantar keratoderma; lamellar ichthyosis to Ichthyosis, lamellar, autosomal dominant, OMIM:146750

26 May 2021, Gel status: 0

Added Tag

Catherine Snow (Genomics England)

Tag Q2_21_rating tag was added to gene: ASPRV1.

6 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ASPRV1 was added gene: ASPRV1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASPRV1 were set to 32516568 Phenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis Review for gene: ASPRV1 was set to GREEN gene: ASPRV1 was marked as current diagnostic