Polydactyly
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Polydactyly not a reported associationCreated: 2 Feb 2022, 4:03 a.m. | Last Modified: 2 Feb 2022, 4:03 a.m.
Panel Version: 0.250
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laurence-Moon syndrome - MIM#245800; Boucher-Neuhauser syndrome - MIM#215470; Oliver-McFarlane syndrome - #275400; Spastic paraplegia 39, autosomal recessive - #612020
Publications
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Laurence-Moon syndrome - MIM#245800
- Boucher-Neuhauser syndrome - MIM#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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Hereditary Neuropathy - complex
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Early-onset Parkinson disease
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnpla6 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPLA6 were changed from to Laurence-Moon syndrome - MIM#245800; Boucher-Neuhauser syndrome - MIM#215470; Oliver-McFarlane syndrome - #275400; Spastic paraplegia 39, autosomal recessive - #612020
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PNPLA6 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnpla6 has been classified as Red List (Low Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PNPLA6 was added gene: PNPLA6 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PNPLA6 was set to Unknown