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Skeletal dysplasia

Gene: TMEM251

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TMEM251 (transmembrane protein 251)
EnsemblGeneIds (GRCh38): ENSG00000153485
EnsemblGeneIds (GRCh37): ENSG00000153485
TMEM251 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated consanguineous families with homozygous variants (c.133C>T; p.Arg45Trp and c.215dupA; p.Tyr72Ter), with co-segregation data in one family. Preliminary in vitro functional assays conducted - Tmem251 knockdown by small interfering RNA induced dedifferentiation of rat primary chondrocytes.
Sources: Literature
Created: 21 Jan 2021, 9:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dysostosis multiplex‐like skeletal dysplasia; severe short stature

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Dysostosis multiplex‐like skeletal dysplasia
  • severe short stature
Clinvar variants
Variants in TMEM251
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TMEM251 was added gene: TMEM251 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM251 were set to 33252156 Phenotypes for gene: TMEM251 were set to Dysostosis multiplex‐like skeletal dysplasia; severe short stature Review for gene: TMEM251 was set to AMBER