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Deafness_IsolatedAndComplex

Gene: CD164

Green List (high evidence)

CD164 (CD164 molecule)
EnsemblGeneIds (GRCh38): ENSG00000135535
EnsemblGeneIds (GRCh37): ENSG00000135535
OMIM: 603356, Gene2Phenotype
CD164 is in 3 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

p.(Arg192Ter), a truncating variant that results in loss of 6 amino acids, was detected in two families (one Polish and one Korean) with hearing loss. Four affected (heterozygous) and two unaffected (neg) were tested, however 14 members had been diagnosed with HL in a large multi generational family (gene panel 237 genes). The second family (WES) had two affected heterozygous and no unaffected were tested. This same variant had previously been reported in a Danish family (12 affected heterozygous and 13 unaffected negative, but one younger member unaffected are heterozygous) with hearing loss (PMID: 26197441), for which functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments. The YHTL motif, deleted by the c.574C>T nonsense mutation, is a canonical sorting motif
known to be recognized by specific adaptor proteins in the cytosol, leading to subcellular trafficking of the transmembrane protein to endosomes and lysosomes.
Created: 5 May 2022, 1:37 a.m. | Last Modified: 5 May 2022, 1:37 a.m.
Panel Version: 1.124

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant nonsyndromic hearing loss MONDO:0019587 CD164-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported; rated as LIMITED evidence by ClinGen.
Sources: Expert list
Created: 30 Dec 2019, 11:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 66, MIM# 616969

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 66, MIM# 616969
OMIM
603356
Clinvar variants
Variants in CD164
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: CD164 were set to 26197441; 35254497; 26197441

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: CD164 were set to 26197441; 35254497; 26197441

5 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: CD164 were set to 26197441

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: cd164 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: cd164 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd164 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD164 was added gene: CD164 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CD164 were set to 26197441 Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM# 616969 Review for gene: CD164 was set to RED