Calcium and Phosphate disorders
Gene: INPPL1EnsemblGeneIds (GRCh38): ENSG00000165458
EnsemblGeneIds (GRCh37): ENSG00000165458
OMIM: 600829, Gene2Phenotype
INPPL1 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Hypophosphataemia can be a feature of the condition and has been reported in at least 5 individuals with chet/homozygous variants from 4 families.
Sources: OtherCreated: 1 Apr 2024, 1:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
opsismodysplasia MONDO:0009785
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- opsismodysplasia MONDO:0009785
- OMIM
- 600829
- Clinvar variants
- Variants in INPPL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: inppl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: inppl1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: INPPL1 was added gene: INPPL1 was added to Calcium and Phosphate disorders. Sources: Other Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPPL1 were set to 23273567 Phenotypes for gene: INPPL1 were set to opsismodysplasia MONDO:0009785 Review for gene: INPPL1 was set to GREEN gene: INPPL1 was marked as current diagnostic