Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: INPP5K

Green List (high evidence)

INPP5K (inositol polyphosphate-5-phosphatase K)
EnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
OMIM
607875
Clinvar variants
Variants in INPP5K
Penetrance
None
Panels with this gene

History Filter Activity

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: INPP5K was added gene: INPP5K was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive