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Mackenzie's Mission_Reproductive Carrier Screening

Gene: PRUNE1

Green List (high evidence)

PRUNE1 (prune exopolyphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000143363
EnsemblGeneIds (GRCh37): ENSG00000143363
OMIM: 617413, Gene2Phenotype
PRUNE1 is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
OMIM
617413
Clinvar variants
Variants in PRUNE1
Penetrance
None
Panels with this gene

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: PRUNE1 was added gene: PRUNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive