Laterality disorders and isomerism

Gene: C11orf70

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

• 29727692
• 29727693

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

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.