Laterality disorders and isomerism

Gene: C11orf70

Green List (high evidence)

C11orf70 (chromosome 11 open reading frame 70)
EnsemblGeneIds (GRCh38): ENSG00000137691
EnsemblGeneIds (GRCh37): ENSG00000137691
C11orf70 is in 5 panels

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

NOTE: Name should be changed to CFAP300 (HGNC approved symbol)

On CGGL Royal Brompton panel. Biallelic pathogenic variants detected in PCD patient.

CFAP300 encodes a highly conserved protein involved dynein arm assembly in respiratory cilia, and is associated with autosomal recessive PCD. Loss of function is a known disease mechanism (Fassad et al 1990 Am J Hum Genet 102:956-972).
Created: 25 Nov 2019, 11:44 p.m. | Last Modified: 25 Nov 2019, 11:44 p.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 618063 Ciliary dyskinesia, primary, 38

Publications

Variants in this GENE are reported as part of current diagnostic practice

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.
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 Hannah Mitchison will add publications to support Green rating. Also need to add MOI and Phenotype to indicate relevance to inclusion.
Created: 21 Jan 2019, 3:50 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 or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Details

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

History Filter Activity

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

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

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: C11orf70 were set to

16 May 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

16 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, 618063

4 Feb 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to C11orf70. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: C11orf70 was added gene: C11orf70 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: C11orf70 was set to