Skeletal dysplasia
Gene: ENPP1EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cole disease: Early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, typically on the limbs but usually not the trunk. Calcinosis cutis and early-onset calcific tendinopathy are also reported. More than 5 unrelated families reported. Variants cluster in SMB1 and SMB2 domains, and tend to affect cysteine residues. Mono-allelic.
Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.
Hypophosphataemic rickets: multiple families reported, some with features of GACI.
Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.Created: 19 Mar 2022, 2:56 a.m. | Last Modified: 19 Mar 2022, 2:56 a.m.
Panel Version: 0.11603
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cole disease 615522
- Arterial calcification, generalized, of infancy, 1 208000
- Hypophosphatemic rickets, autosomal recessive, 2 613312
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar Keratoderma and Erythrokeratoderma
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Skeletal dysplasia
- Nucleotide metabolism disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
- Prepair 500+
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ENPP1 was added gene: ENPP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Cole disease 615522; Arterial calcification, generalized, of infancy, 1 208000; Hypophosphatemic rickets, autosomal recessive, 2 613312