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Prepair 1000+

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges.
Well reported in >10 unrelated families.
Created: 23 Dec 2024, 4:15 a.m. | Last Modified: 23 Dec 2024, 4:15 a.m.
Panel Version: 1.837

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Opsismodysplasia MIM #258480

Publications

Created: 23 Dec 2024, 4:15 a.m.
Last Modified: 23 Dec 2024, 4:15 a.m.
Panel version: 1.837

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opsismodysplasia MIM #258480
OMIM
600829
Clinvar variants
Variants in INPPL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inppl1 has been classified as Green List (High Evidence).

24 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INPPL1 were changed from Opsismodysplasia, 258480 (3) to Opsismodysplasia MIM #258480

24 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INPPL1 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)