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Fetal anomalies

Gene: PNPLA1

Amber List (moderate evidence)

PNPLA1 (patatin like phospholipase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000180316
EnsemblGeneIds (GRCh37): ENSG00000180316
OMIM: 612121, Gene2Phenotype
PNPLA1 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for CONGENITAL ICHTHYOSIS
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL ICHTHYOSIS
OMIM
612121
Clinvar variants
Variants in PNPLA1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PNPLA1 was added gene: PNPLA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS