Ichthyosis
Gene: AP1S1EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 7 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).
MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3.
Sources: LiteratureCreated: 17 Aug 2020, 7:48 a.m. | Last Modified: 17 Aug 2020, 7:48 a.m.
Panel Version: 0.90
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MEDNIK syndrome (MIM#609313)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- MEDNIK syndrome (MIM#609313)
- OMIM
- 603531
- Clinvar variants
- Variants in AP1S1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap1s1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap1s1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: AP1S1 was added gene: AP1S1 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301 Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313) Review for gene: AP1S1 was set to GREEN gene: AP1S1 was marked as current diagnostic