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DDG2P

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 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol is CFAP410.
Created: 19 Nov 2018, 1:29 p.m.
Original DDG2P rating: confirmed. Gene symbol used in Original DD-G2P gene list is CFAP410.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Axial Spondylometaphyseal Dysplasia
Tags
new-gene-name
OMIM
603191
Clinvar variants
Variants in C21orf2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: C21orf2 was added gene: C21orf2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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