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  3. ENPP1
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: ENPP1

Green List (high evidence)
ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Punctate palmoplantar keratoderma is a feature of Cole disease

PMID: 24075184;
- 3 families all het for missense variants

PMID: 32598042;
- 1 family het for a missense
Created: 12 Aug 2020, 2:55 a.m. | Last Modified: 12 Aug 2020, 2:55 a.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cole disease (MIM#615522)

Publications

Created: 12 Aug 2020, 2:55 a.m.
Last Modified: 12 Aug 2020, 2:55 a.m.
Panel version: 0.8

History Filter Activity

12 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: enpp1 has been classified as Green List (High Evidence).

12 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ENPP1 were changed from to Cole disease (MIM#615522)

12 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ENPP1 were set to

12 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ENPP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ENPP1 was added gene: ENPP1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ENPP1 was set to Unknown