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Severe Paediatric Disorders

Gene: PNPLA6

Green List (high evidence)

PNPLA6 (patatin like phospholipase domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 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: PNPLA6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Boucher-Neuhauser syndrome, 215470 (3) | ?Laurence-Moon syndrome, 245800 (3) | Oliver-McFarlane syndrome, 275400 (3) | Spastic paraplegia 39, autosomal recessive, 612020 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PNPLA6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Oliver-McFarlane syndrome, 275400; Boucher-Neuhauser syndrome, 215470 for gene: PNPLA6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PNPLA6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PNPLA6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PNPLA6 was added gene: PNPLA6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PNPLA6 was set to