Pituitary hormone deficiency
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
1 review
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:03 p.m.
Comment on list classification: Promoted from red to green. PNPLA6 is confirmed to be associated with the listed phenotypes in OMIM but not Gene2Phenotype. It is a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients diagnosed with Boucher-Neuhauser or Gordon Holmes syndromes who have LOF variants in PNPLA6.Created: 12 Dec 2018, 2:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
- Phenotypes
-
- Boucher-Neuhauser syndrome (215470)
- Oliver-McFarlane syndrome (275400)
- Spastic paraplegia 39, autosomal recessive (612020)
- 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
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pnpla6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pnpla6 has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive (612020) to Boucher-Neuhauser syndrome (215470); Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020)
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PNPLA6 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PNPLA6 was added gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive (612020)