GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ENPP1

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Abnormal mineralization gp of SD - at least 3 cases reported for each of the two OMIM classifications. Cole disease AD - het for recurrent cys variants (cys164Ser, cys 177tyr). Gene also associated with arterial calcification, generalized, of infancy, 1 208000.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cole disease 615522; Hypophosphatemic rickets, autosomal recessive, 2 613312

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Hypophosphatemic rickets, autosomal recessive, 2 613312
Cole disease 615522

OMIM

173335

Clinvar variants

Variants in ENPP1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ENPP1 was added gene: ENPP1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2 613312; Cole disease 615522

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ENPP1