Respiratory ciliopathies including non-CF bronchiectasis
Gene: C11orf70
New HGNC approved gene symbol for C11orf70 is CFAP300Created: 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 givenCreated: 5 Dec 2018, 1:54 p.m.
Tag gene-checked tag was added to gene: C11orf70.
Publications for gene: C11orf70 were set to
Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, 618063
Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag new-gene-name tag was added to gene: C11orf70.
Source Expert Review Green was added to C11orf70. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: C11orf70 was added gene: C11orf70 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: C11orf70 was set to