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Hearing loss

Gene: CD164

Red List (low evidence)

CD164 (CD164 molecule)
EnsemblGeneIds (GRCh38): ENSG00000135535
EnsemblGeneIds (GRCh37): ENSG00000135535
OMIM: 603356, Gene2Phenotype
CD164 is in 1 panel

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Red List (low evidence)

Included in our current panel, no class 4 or 5 variants identified. One nonsense variant in literature Nyegaard et al (2015) PMID 26197441
Created: 17 Feb 2019, 4:35 p.m.

Publications

Eleanor Williams (Genomics England Curator)

Added at suggestion of Emma Ashton, GOSH
Sources: Expert list
Created: 17 Feb 2019, 4:31 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • ?Deafness, autosomal dominant 66 616969
OMIM
603356
Clinvar variants
Variants in CD164
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CD164 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Feb 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CD164 were changed from to ?Deafness, autosomal dominant 66 616969

17 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CD164 were set to

17 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CD164 was added gene: CD164 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: CD164 was set to Unknown