IUGR and IGF abnormalities
Gene: PNPLA6
PNPLA6 (patatin like phospholipase domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
3 reviews
Peter Clayton (University of Manchester)
Mehul Dattani (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
emma baple (Genomics England Curator)
Comment on list classification: Multiple pituitary abnormalitiesCreated: 2 May 2016, 9:22 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Monogenic short stature
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Limb disorders
- DDG2P
- Retinal disorders
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
History Filter Activity
2 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Mehul Dattani (UCL Institute of Child Health)PNPLA6 was added to IUGR and IGF abnormalitiespanel. Sources: Expert Review,Literature
25 Oct 2015, Gel status: 0
Created
Mehul Dattani (UCL Institute of Child Health)PNPLA6 was created by mdattani