Chondrodysplasia Punctata
Gene: GNPATEnsemblGeneIds (GRCh38): ENSG00000116906
EnsemblGeneIds (GRCh37): ENSG00000116906
OMIM: 602744, Gene2Phenotype
GNPAT is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective.
More than 10 unrelated families reported.Created: 27 Mar 2021, 3:34 a.m. | Last Modified: 27 Mar 2021, 3:34 a.m.
Panel Version: 0.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
- MONDO:0009112
- OMIM
- 602744
- Clinvar variants
- Variants in GNPAT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnpat has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GNPAT were changed from Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GNPAT were changed from to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GNPAT were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GNPAT 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: GNPAT was added gene: GNPAT was added to Chondrodysplasia punctata_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNPAT was set to Unknown