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Skeletal dysplasia

Gene: C21orf2

Green List (high evidence)

C21orf2 (chromosome 21 open reading frame 2)
EnsemblGeneIds (GRCh38): ENSG00000160226
EnsemblGeneIds (GRCh37): ENSG00000160226
OMIM: 603191, Gene2Phenotype
C21orf2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Created: 26 Jun 2021, 7:26 a.m. | Last Modified: 26 Jun 2021, 7:33 a.m.
Panel Version: 0.8130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Axial Spondylometaphyseal Dysplasia 602271
  • Spondylometaphyseal dysplasia, axial 602271
OMIM
603191
Clinvar variants
Variants in C21orf2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C21orf2 was added gene: C21orf2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert list,Expert Review Green Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C21orf2 were set to 26974433 Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia 602271; Spondylometaphyseal dysplasia, axial 602271