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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: 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 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||