Skeletal dysplasia
Gene: GNPNAT1EnsemblGeneIds (GRCh38): ENSG00000100522
EnsemblGeneIds (GRCh37): ENSG00000100522
OMIM: 616510, Gene2Phenotype
GNPNAT1 is in 4 panels
3 reviews
Krithika Murali (Victorian Clinical Genetics Services)
2 additional families reportedCreated: 2 Nov 2022, 2:20 a.m. | Last Modified: 2 Nov 2022, 2:20 a.m.
Panel Version: 0.226
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: Expert listCreated: 30 Jul 2020, 11:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Publications
Arina Puzriakova (Genomics England)
PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: LiteratureCreated: 30 Jul 2020, 11:19 a.m. | Last Modified: 30 Jul 2020, 11:21 a.m.
Panel Version: 0.3590
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic skeletal dysplasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GNPNAT1 was added gene: GNPNAT1 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPNAT1 were set to 32591345 Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia Review for gene: GNPNAT1 was set to AMBER