Renal Tubulopathies and related disorders
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)
Multiple families reported, some in addition had GACI features.Created: 19 Mar 2022, 2:58 a.m. | Last Modified: 19 Mar 2022, 2:58 a.m.
Panel Version: 0.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_CalcPhos v38.1.0
- Expert Review Green
- Expert Review Green
- KidGen_CalcPhos v38.1.0
- Victorian Clinical Genetics Services
- Phenotypes
-
- Arterial calcification, generalized, of infancy, 1, MIM# 208000
- Cole disease, MIM# 615522
- Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- Publications
- 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 publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ENPP1 was added gene: ENPP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ENPP1 were set to 15605415; 20016754; 12881724; 20137772; 20137773; 33005041; 35220637; 28964717; 24075184; 26617416; 32598042 Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312