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Skeletal dysplasia

Gene: ARCN1

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ARCN1 (archain 1)
EnsemblGeneIds (GRCh38): ENSG00000095139
EnsemblGeneIds (GRCh37): ENSG00000095139
OMIM: 600820, Gene2Phenotype
ARCN1 is in 8 panels

1 review

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

Green List (high evidence)

Clinical features like short stature, rhizomelia, laxity of the small joints, cleft palete and developmental delay also tend to occur in Skeletal dysplasia.

ARCN1 gene encodes the coatomer subunit delta of COPI which is a coatomer protein complex responsible for intracellular protein transport. The importance of this mechanisms is underscored by various skeletal disorders. COPI-mediated transport is important in human development, including skeletogenesis and brain growth.
Sources: Literature
Created: 15 Jun 2021, 11:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
OMIM
600820
Clinvar variants
Variants in ARCN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 0

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

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: ARCN1 was added gene: ARCN1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARCN1 were set to PMID: 27476655 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Penetrance for gene: ARCN1 were set to Complete Review for gene: ARCN1 was set to AMBER