1. Panels
  2. Fetal anomalies
  3. PNPLA8
Genes in panel
Prev Next

Fetal anomalies

Gene: PNPLA8

Green List (high evidence)
PNPLA8 (patatin like phospholipase domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000135241
EnsemblGeneIds (GRCh37): ENSG00000135241
OMIM: 612123, Gene2Phenotype
PNPLA8 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 4 panels, inc. IEM and severe paediatric disorders. Associated with ?Mitochondrial myopathy with lactic acidosis. Add as links to cerebellar atrophy and microcephaly. Early onset and premature death. Masih et al., 2021 PMID 34177434: Px: ultrasound at 20wks = normal cerebral development and cerebellar hypoplasia. Ultrasound at 21+3wks = cerebellar atrophy and microcephaly. Microcephaly and cerebellar hypoplasia continued to progress during pregnancy. Female baby delivered -> NICU with intractable seizures and generalised hypertonia. Died at 6mo. Phenotype and neuroimaging suggestive of pontocerebellar hypoplasia (esp. type 4 and 5, caused by TSEN54 variants). WES = PNPLA8 c.1874A>G p.(His625Arg) hom. FHx: 3 infant deaths; all had intractable seizures with neonatal onset. Didn't reach developmental milestones. This case was also reported in Masih et al., 2022 but it's not a separate px. Shukla et al., 2018 PMID 29681094: Px1: 'parents mentioned that the third trimester ultrasound suggested microcephaly, but documents of head size were unavailable to review'. 6do, congenital microcepahly, spacticity, seizures. Brain MRI: simplified gyral pattern, hypoplasia of CC, prominent cisterna magna with hypoplastic cerebellum, brainstem atrophy. Conclusion: link to prenatal phenotypes (cerebellar atrophy and microcephaly). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial myopathy with lactic acidosis, OMIM:251950

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
OMIM
612123
Clinvar variants
Variants in PNPLA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: PNPLA8. Tag Q2_23_NHS_review was removed from gene: PNPLA8.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to PNPLA8. Source NHS GMS was added to PNPLA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PNPLA8 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: PNPLA8. Tag Q2_23_NHS_review tag was added to gene: PNPLA8.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: PNPLA8 was added gene: PNPLA8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, OMIM:251950