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STRs in panel
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Inborn errors of metabolism

Gene: PNPLA4

Red List (low evidence)

PNPLA4 (patatin like phospholipase domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000006757
EnsemblGeneIds (GRCh37): ENSG00000006757
OMIM: 300102, Gene2Phenotype
PNPLA4 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Can only find a single case reported in the literature to date.
Created: 31 Aug 2018, 4:56 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Details

Mode of Inheritance
Unknown
Sources
OMIM
300102
Clinvar variants
Variants in PNPLA4
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PNPLA4 was added gene: PNPLA4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNPLA4 was set to Unknown