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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

Lilian Downie (Victorian Clinical Genetics Services)

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.

New HGNC approved name is CFAP410.
Created: 12 Dec 2024, 2:35 a.m. | Last Modified: 12 Dec 2024, 2:35 a.m.
Panel Version: 1.709

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 12 Dec 2024, 2:35 a.m.
Last Modified: 12 Dec 2024, 2:35 a.m.
Panel version: 1.709

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal dystrophy with macular staphyloma MIM#617547
  • Spondylometaphyseal dysplasia, axial MIM#602271
OMIM
603191
Clinvar variants
Variants in C21orf2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: c21orf2 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive to Retinal dystrophy with macular staphyloma MIM#617547; Spondylometaphyseal dysplasia, axial MIM#602271

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: C21orf2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C21orf2 was added gene: C21orf2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive