Skeletal dysplasia
Gene: GNPNAT1
one consanguineous family described, 4 affected individuals, all homozygous for p.Glu76Lys. not seen in population dbs.
not a partiuclarly highly conserved residue, prediction software conflicting results. linkage supports. keep as amber.Created: 30 Jan 2021, 12:30 p.m. | Last Modified: 30 Jan 2021, 12:30 p.m.
Panel Version: 2.80
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhizomelic short stature
Publications
Comment on list classification: Amber rating as only one family, but some supporting functional data. Additional cases required to validate pathogenicity of GNPNAT1.Created: 30 Jul 2020, 12:30 p.m. | Last Modified: 30 Jul 2020, 12:30 p.m.
Panel Version: 2.11
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.
Sources: LiteratureCreated: 30 Jul 2020, 11:24 a.m. | Last Modified: 30 Jul 2020, 12:29 p.m.
Panel Version: 2.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic skeletal dysplasia
Publications
Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
gene: GNPNAT1 was added gene: GNPNAT1 was added to Skeletal dysplasia. Sources: Literature 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 RED