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Skeletal dysplasia

Gene: GNPAT

Green List (high evidence)

GNPAT (glyceronephosphate O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116906
EnsemblGeneIds (GRCh37): ENSG00000116906
OMIM: 602744, Gene2Phenotype
GNPAT is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 3:36 a.m. | Last Modified: 27 Mar 2021, 3:36 a.m.
Panel Version: 0.6928

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • RCDP2
  • Rhizomelic Chondrodysplasia Punctata
  • Rhizomelic chondrodysplasia punctata type 2
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
OMIM
602744
Clinvar variants
Variants in GNPAT
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNPAT was added gene: GNPAT was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPAT were set to RCDP2; Rhizomelic Chondrodysplasia Punctata; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765