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Mackenzie's Mission_Reproductive Carrier Screening

Gene: NHLRC1

Green List (high evidence)

NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 13 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: NHLRC1 was added gene: NHLRC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)