Activity
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| Monogenic hearing loss v6.43 | CD164 | Ida Ertmanska changed review comment from: Comment on list classification: There are now more than 3 unrelated families of various ancestries with the same heterozygous CD164 variant (p.Arg192Ter), which segregates in a dominant fashion with bilateral progressive hearing loss. Hence, this gene can be promoted to Green for Monogenic hearing loss.; to: Comment on list classification: There are now more than 3 unrelated families of various ancestries with the same heterozygous CD164 variant (p.Arg192Ter), which segregates in a dominant fashion with bilateral progressive hearing loss. There is also some supportive evidence from HEK cells and mouse expression studies. Hence, this gene can be promoted to Green for Monogenic hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.43 | CD164 |
Ida Ertmanska changed review comment from: PMID: 35254497 Oziębło et al., 2022 Family 1 - large Polish pedigree with AD progressive hearing loss; CD164: c.574C>T, p.Arg192Ter segregated in affected individuals Family 2 - Korean family, 25 yo proband with bilateral progressive hearing loss onset around 22 years old; also het for CD164 p.Arg192Ter Same variant as reported in PMID 26197441 Nyegaard et al (2015) in a Danish family with hearing loss - recurrent hot spot mutation? CD164: c.574C>T, p.Arg192Ter - only 2 hets reported in gnomAD v4.1.1, MAF = 0.000001696 Age of onset of hearing loss for all 3 families ranged from newborn stage to adulthood. PMID: 36454368 Moresco et al., 2023 Family 7 - AD nonsyndromic hearing loss, affected individuals harboured het CD164: c.574C>T, p.Arg192Ter variant - segregated with disease. Seq method: Trio WES. The assocation between CD164 and autosomal dominant nonsyndromic hearing loss has been classified as Moderate by ClinGen Hearing Loss GCEP in 2024.; to: PMID: 35254497 Oziębło et al., 2022 Family 1 - large Polish pedigree with AD progressive hearing loss; CD164: c.574C>T, p.Arg192Ter segregated in affected individuals Family 2 - Korean family, 25 yo proband with bilateral progressive hearing loss onset around 22 years old; also het for CD164 p.Arg192Ter Same variant as reported in PMID 26197441 Nyegaard et al (2015) in a Danish family with hearing loss - recurrent hot spot mutation? CD164: c.574C>T, p.Arg192Ter - only 2 hets reported in gnomAD v4.1.1, MAF = 0.000001696 Age of onset of hearing loss for all 3 families ranged from newborn stage to adulthood. PMID: 36454368 Moresco et al., 2023 Family 7 - AD nonsyndromic hearing loss, affected individuals harboured het CD164: c.574C>T, p.Arg192Ter variant - segregated with disease. Seq method: Trio WES. Functional evidence: PMID: 26197441 - Nyegaard et al (2015): Functional studies in HEK cells demonstrated that the truncated p.Arg192Ter protein was almost completely retained on the plasma cell membrane in contrast to the WT protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In addition, CD164 was found to be expressed in the mouse ear, in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. The assocation between CD164 and autosomal dominant nonsyndromic hearing loss has been classified as Moderate by ClinGen Hearing Loss GCEP in 2024. |
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| Monogenic hearing loss v6.43 | CD164 | Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated families various ancestries with the same heterozygous CD164 variant (p.Arg192Ter), which segregates in a dominant fashion with bilateral progressive hearing loss. Hence, this gene can be promoted to Green for Monogenic hearing loss.; to: Comment on list classification: There are now more than 3 unrelated families of various ancestries with the same heterozygous CD164 variant (p.Arg192Ter), which segregates in a dominant fashion with bilateral progressive hearing loss. Hence, this gene can be promoted to Green for Monogenic hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.20 | CD164 | Ida Ertmanska Classified gene: CD164 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.20 | CD164 | Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated families various ancestries with the same heterozygous CD164 variant (p.Arg192Ter), which segregates in a dominant fashion with bilateral progressive hearing loss. Hence, this gene can be promoted to Green for Monogenic hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.20 | CD164 | Ida Ertmanska Gene: cd164 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.19 | CD164 | Ida Ertmanska Phenotypes for gene: CD164 were changed from ?Deafness, autosomal dominant 66 616969 to ?Deafness, autosomal dominant 66, OMIM:616969; autosomal dominant nonsyndromic hearing loss 66, MONDO:0014854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.18 | CD164 | Ida Ertmanska Publications for gene: CD164 were set to 26197441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.17 | CD164 | Ida Ertmanska Mode of inheritance for gene: CD164 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.16 | CD164 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: CD164. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.16 | CD164 |
Ida Ertmanska changed review comment from: PMID: 35254497 Oziębło et al., 2022 Family 1 - large Polish pedigree with AD progressive hearing loss; CD164: c.574C>T, p.Arg192Ter segregated in affected individuals Family 2 - Korean family, 25 yo proband with bilateral progressive hearing loss onset around 22 years old; also het for CD164 p.Arg192Ter Same variant as reported in PMID 26197441 Nyegaard et al (2015) in a Danish family with hearing loss - recurrent hot spot mutation? CD164: c.574C>T, p.Arg192Ter - only 2 hets reported in gnomAD v4.1.1, MAF = 0.000001696 Age of onset of hearing loss for all 3 families ranged from newborn stage to adulthood. PMID: 36454368 Moresco et al., 2023 Family 7 - AD nonsyndromic hearing loss, affected individuals harboured het CD164: c.574C>T, p.Arg192Ter variant - segregated with disease. Seq method: Trio WES.; to: PMID: 35254497 Oziębło et al., 2022 Family 1 - large Polish pedigree with AD progressive hearing loss; CD164: c.574C>T, p.Arg192Ter segregated in affected individuals Family 2 - Korean family, 25 yo proband with bilateral progressive hearing loss onset around 22 years old; also het for CD164 p.Arg192Ter Same variant as reported in PMID 26197441 Nyegaard et al (2015) in a Danish family with hearing loss - recurrent hot spot mutation? CD164: c.574C>T, p.Arg192Ter - only 2 hets reported in gnomAD v4.1.1, MAF = 0.000001696 Age of onset of hearing loss for all 3 families ranged from newborn stage to adulthood. PMID: 36454368 Moresco et al., 2023 Family 7 - AD nonsyndromic hearing loss, affected individuals harboured het CD164: c.574C>T, p.Arg192Ter variant - segregated with disease. Seq method: Trio WES. The assocation between CD164 and autosomal dominant nonsyndromic hearing loss has been classified as Moderate by ClinGen Hearing Loss GCEP in 2024. |
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| Monogenic hearing loss v6.16 | CD164 | Ida Ertmanska reviewed gene: CD164: Rating: GREEN; Mode of pathogenicity: None; Publications: 26197441, 35254497, 36454368; Phenotypes: ?Deafness, autosomal dominant 66, OMIM:616969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.79 | CD164 | Eleanor Williams Mode of inheritance for gene: CD164 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.78 | CD164 | Eleanor Williams Phenotypes for gene: CD164 were changed from to ?Deafness, autosomal dominant 66 616969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.77 | CD164 | Eleanor Williams Publications for gene: CD164 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.59 | CD164 | Emma Ashton reviewed gene: CD164: Rating: RED; Mode of pathogenicity: ; Publications: 26197441; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.57 | CD164 |
Eleanor Williams gene: CD164 was added gene: CD164 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: CD164 was set to Unknown Added comment: Added at suggestion of Emma Ashton, GOSH Sources: Expert list |
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