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Mackenzie's Mission_Reproductive Carrier Screening

Gene: INPP5E

Green List (high evidence)

INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 15 panels

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History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPP5E was added gene: INPP5E was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)