This Panel is marked as Retired
Growth failure in early childhood
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
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Childhood onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Retinal disorders
- Monogenic short stature
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Adult onset hereditary spastic paraplegia
History Filter Activity
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to PNPLA6. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PNPLA6 was added gene: PNPLA6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 25480986 Phenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism