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  3. C21orf2
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Thoracic dystrophies

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

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is CFAP410
Created: 31 Jul 2018, 3:29 p.m.
Created: 31 Jul 2018, 3:29 p.m.

Panel version: 1.2

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two green reviews, and 6 families/cases reported. Is green on the Unexplained skeletal dysplasia Version 1.32 gene panel.
Created: 26 May 2017, 9:33 a.m.
Created: 26 May 2017, 9:33 a.m.

Panel version: 0.38

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
Jeune/Axial Spondylomethaphyseal dysplasia

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
Jeune/Axial Spondylomethaphyseal dysplasia

Created: 25 May 2017, 9:22 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Jeune/Axial Spondylomethaphyseal dysplasia
  • Axial Spondylometaphyseal Dysplasia 602271
Tags
new-gene-name
OMIM
603191
Clinvar variants
Variants in C21orf2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

26 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for C21orf2 was changed to BIALLELIC, autosomal or pseudoautosomal

26 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for C21orf2 was changed to BIALLELIC, autosomal or pseudoautosomal

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for C21orf2 were set to Jeune/Axial Spondylomethaphyseal dysplasia;Axial Spondylometaphyseal Dysplasia 602271

26 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for C21orf2 were set to 26974433

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

C21orf2 was created by hmitchis

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

C21orf2 was added to Thoracic dystrophiespanel. Sources: Expert Review