GNPAT
HGNC:4416 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
2Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in GNPAT publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
| skeletal dysplasia | — | 1 | 1 |
| congenital cataract | — | 1 | 1 |
Linked variants
Variants normalized to GNPAT| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1602+1G>A | c.1602+1G>A | 1 | 1 |
| g.231408138G>A | g.231408138G>A | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 16 | 1 |
Supporting publications
2 records- 2023Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene.Clinical case reportsPubMed ↗
- 2021Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.Journal of inherited metabolic diseasePubMed ↗