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  3. C11orf70
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Fetal anomalies

Gene: C11orf70

Green List (high evidence)
C11orf70 (chromosome 11 open reading frame 70)
EnsemblGeneIds (GRCh38): ENSG00000137691
EnsemblGeneIds (GRCh37): ENSG00000137691
C11orf70 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.
Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
Created: 22 Apr 2019, 8:08 p.m.
Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300.
Created: 22 Apr 2019, 8:07 p.m.
New gene:disorder association added to DDG2P in March 2019: PRIMARY CILIARY DYSKINESIA. DDG2P Disease confidence: confirmed. Missing DDG2P mode of pathogenicity/mutation consequence. Missing DDG2P mode of inheritance. Added to Fetal anomalies panel awaiting clinical review.
Created: 22 Apr 2019, 8:06 p.m.
Created: 22 Apr 2019, 8:06 p.m.

Panel version: 0.225

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Ciliary dyskinesia, primary, 38, OMIM:618063
Tags
new-gene-name gene-checked
Clinvar variants
Variants in C11orf70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, OMIM:618063

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: C11orf70.

22 Apr 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2019, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag new-gene-name tag was added to gene: C11orf70.

22 Apr 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: C11orf70 was added gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA