GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: C21orf2

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

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C21orf2 is CFAP410
Created: 9 May 2019, 3:12 p.m.

Created: 9 May 2019, 3:12 p.m.

Panel version: 0.31

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in Spondylometaphyseal dysplasias gp of SD. AR. At least 3 cases reported. Gene also associated with retinal dystrophy with macular staphhyloma. MIM 617547. Previously called C21ORF2; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia, axial 602271

Publications

26974433

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Spondylometaphyseal dysplasia, axial 602271

Tags

new-gene-name

OMIM

603191

Clinvar variants

Variants in C21orf2

Penetrance

None

Panels with this gene

History Filter Activity

9 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: C21orf2.

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: C21orf2 was added gene: C21orf2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf2 were set to Spondylometaphyseal dysplasia, axial 602271

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: C21orf2