Respiratory ciliopathies including non-CF bronchiectasis
Gene: C11orf70

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

New HGNC approved gene symbol for C11orf70 is CFAP300
Created: 4 Feb 2019, 2:46 p.m.

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CFAP300; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.

Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.142

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ciliary dyskinesia, primary, 38, OMIM:618063

Tags

new-gene-name gene-checked

Clinvar variants

Variants in C11orf70

Penetrance

None

Publications

29727692

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 Ciliary dyskinesia, primary, 38, 618063 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.

5 Jul 2019, Gel status: 3