Monogenic short stature
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
-
- Hereditary neuropathy
- Limb disorders
- DDG2P
- Intellectual disability
- Monogenic short stature
- Adult onset neurodegenerative disorder
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- IUGR and IGF abnormalities
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PNPLA6 was added gene: PNPLA6 was added to Monogenic short stature. Sources: Expert Review Red 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