GMS Respiratory specialist test group 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 4 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 CFAP300
Created: 26 Nov 2018, 2:25 p.m.

Details

Sources
  • Expert Review Green
  • NHS GMS
Tags
new-gene-name
Clinvar variants
Variants in C11orf70
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2018, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

26 Nov 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)

26 Nov 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 GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: C11orf70 was set to