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Skeletal dysplasia

Gene: NEPRO

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NEPRO (nucleolus and neural progenitor protein)
EnsemblGeneIds (GRCh38): ENSG00000163608
EnsemblGeneIds (GRCh37): ENSG00000163608
OMIM: 617089, Gene2Phenotype
NEPRO is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant. PMID 31250547: 1 family with homozygous novel missense All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature
Created: 10 May 2021, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 3, MIM618853

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Anauxetic dysplasia 3, MIM618853
OMIM
617089
Clinvar variants
Variants in NEPRO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NEPRO was added gene: NEPRO was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEPRO were set to 26633546; 29620724; 31250547 Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853 Review for gene: NEPRO was set to AMBER