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Ataxia - paediatric

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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Boucher-Neuhauser syndrome MIM#215470
  • Laurence-Moon syndrome MIM#245800
  • Oliver-McFarlane syndrome MIM#275400
  • Spastic paraplegia 39, autosomal recessive MIM#612020
OMIM
603197
Clinvar variants
Variants in PNPLA6
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pnpla6 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pnpla6 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 1

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 - paediatric. Sources: Expert list Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020 Review for gene: PNPLA6 was set to GREEN