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  3. PNPLA6
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Ataxia - adult onset

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Variable age of onset for neurological features (including ataxia) from childhood to adulthood.
Sources: Expert list
Created: 17 Apr 2020, 12:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020

Created: 17 Apr 2020, 12:45 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.144

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

- No pattern regarding variant location/condition obvious, both missense and PTCs have been reported to cause all conditions (OMIM, PMID: 24355708, PMID: 25480986).
- PMID: 25480986 shows variants causing OFS and LMS had greater loss of esterse activity than SPG, correlating with earlier onset
Created: 27 Feb 2020, 10:51 p.m. | Last Modified: 27 Feb 2020, 10:51 p.m.
Panel Version: 0.1473

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 27 Feb 2020, 10:51 p.m.
Last Modified: 27 Feb 2020, 10:51 p.m.
Panel version: Imported from Mendeliome panel version 0.1473

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype.
Sources: Expert list
Created: 27 Dec 2019, 3:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Boucher-Neuhauser syndrome, MIM#215470

Created: 27 Dec 2019, 3:29 a.m.

Panel version: Imported from Ataxia_VCGS panel version 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
  • Boucher-Neuhauser syndrome, 215470
  • Sapstic paraplegia 39, 612020
  • Oliver-McFarlane syndrome (#603197)
  • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
  • Oliver-McFarlane syndrome, 275400
OMIM
603197
Clinvar variants
Variants in PNPLA6
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PNPLA6 was added gene: PNPLA6 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome (#603197); Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome, 275400