Skeletal Dysplasia_Fetal
Gene: GNPNAT1EnsemblGeneIds (GRCh38): ENSG00000100522
EnsemblGeneIds (GRCh37): ENSG00000100522
OMIM: 616510, Gene2Phenotype
GNPNAT1 is in 4 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped.
Sources: LiteratureCreated: 2 Nov 2022, 2:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Rhizomelic dysplasia, Ain-Naz type, MIM#619598
- OMIM
- 616510
- Clinvar variants
- Variants in GNPNAT1
- 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: gnpnat1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: GNPNAT1 was added gene: GNPNAT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345 Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Review for gene: GNPNAT1 was set to AMBER