Ichthyosis and erythrokeratoderma
Gene: ASPRV1The 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT
Publications
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
-3 heterozygous missense variants identified across 4 unrelated kindreds
-mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing
Sources: LiteratureCreated: 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
Tag Q2_21_rating was removed from gene: ASPRV1. Tag Q4_21_NHS_review was removed from gene: ASPRV1.
Source Expert Review Green was added to ASPRV1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_NHS_review tag was added to gene: ASPRV1.
Gene: asprv1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ASPRV1 were changed from palmoplantar keratoderma; lamellar ichthyosis to Ichthyosis, lamellar, autosomal dominant, OMIM:146750
Tag Q2_21_rating tag was added to gene: ASPRV1.
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