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Severe Paediatric Disorders

Gene: PNPLA8

Amber List (moderate evidence)

PNPLA8 (patatin like phospholipase domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000135241
EnsemblGeneIds (GRCh37): ENSG00000135241
OMIM: 612123, Gene2Phenotype
PNPLA8 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PNPLA8; Recommended initial gene rating: I don't know; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) | Mismatch repair cancer syndrome, 276300 (3); Mode of inheritance: ND | Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4, 614337
  • Mismatch repair cancer syndrome, 276300
OMIM
612123
Clinvar variants
Variants in PNPLA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PNPLA8 were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8

19 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8

19 Feb 2020, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PNPLA8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8

14 Feb 2020, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PNPLA8.

14 Feb 2020, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to PNPLA8. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PNPLA8 was added gene: PNPLA8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PNPLA8 was set to