Research panel - Severe Paediatric Disorders
Gene: PNPLA6

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

Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

?Laurence-Moon syndrome, 245800
Spastic paraplegia 39, autosomal recessive, 612020
Boucher-Neuhauser syndrome, 215470
Oliver-McFarlane syndrome, 275400

OMIM

603197

Clinvar variants

Variants in PNPLA6

Penetrance

None

Publications

30847515

Panels with this gene