Skeletal Dysplasia_Fetal
Gene: INPPL1

INPPL1 (inositol polyphosphate phosphatase like 1)
EnsemblGeneIds (GRCh38): ENSG00000165458
EnsemblGeneIds (GRCh37): ENSG00000165458
OMIM: 600829, Gene2Phenotype
INPPL1 is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>30 probands reported

short limbs, hands and feet; angulation of the long bones, macrocephaly are some of the reported features
Created: 15 Nov 2021, 3:46 a.m. | Last Modified: 15 Nov 2021, 3:46 a.m.

Panel Version: 0.448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Opsismodysplasia MIM#258480

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Nov 2021, 3:46 a.m.
Last Modified: 15 Nov 2021, 3:46 a.m.
Panel version: Imported from Fetal anomalies panel version 0.448

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

600829

Clinvar variants

Variants in INPPL1

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPPL1 was added gene: INPPL1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPPL1 was set to Unknown

Skeletal Dysplasia_Fetal Gene: INPPL1