Activity
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14 actions
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| 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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