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Pseudoxanthoma elasticum

Gene: ENPP1

Green List (high evidence)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 17 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

ENPP1 has been added to the panel for R420 Pseudoxanthoma elasticum with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:29 p.m. | Last Modified: 30 Jun 2023, 3:29 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ENPP1 was added gene: ENPP1 was added to Pseudoxanthoma elasticum. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal