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Prepair 1000+

Gene: SMPD1

Green List (high evidence)

SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 12 panels

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History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Niemann-Pick disease, type A, 257200 (3) for gene: SMPD1

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: SMPD1 was added gene: SMPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)