GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: C11orf70EnsemblGeneIds (GRCh38): ENSG00000137691
EnsemblGeneIds (GRCh37): ENSG00000137691
C11orf70 is in 4 panels
1 review
Louise Daugherty (Genomics England Curator)
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 intial 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. Added new gene name tag. New HGNC approved gene symbol for C11orf70 is CFAP300Created: 26 Nov 2018, 2:25 p.m.
Details
- Sources
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- Expert Review Green
- NHS GMS
- Tags
- Clinvar variants
- Variants in C11orf70
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: C11orf70.
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)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: C11orf70 was added gene: C11orf70 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: C11orf70 was set to