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Skeletal dysplasia

Gene: INPPL1

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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: 22 Nov 2021, 1:46 a.m. | Last Modified: 22 Nov 2021, 1:46 a.m.
Panel Version: 0.9785

Phenotypes
Opsismodysplasia MIM#258480

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
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Opsismodysplasia 258480
OMIM
600829
Clinvar variants
Variants in INPPL1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPPL1 was added gene: INPPL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPPL1 were set to Opsismodysplasia 258480