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| Monogenic hearing loss v3.7 | CEACAM16 | Arina Puzriakova Tag Q4_21_MOI was removed from gene: CEACAM16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.7 | CEACAM16 | Arina Puzriakova commented on gene: CEACAM16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.6 | CEACAM16 |
Arina Puzriakova Source NHS GMS was added to CEACAM16. Mode of inheritance for gene CEACAM16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Monogenic hearing loss v2.196 | CEACAM16 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving mode of inheritance as monoallelic for now but with recommendation for changing to both mono and biallelic after GMS review. 3 reported cases with homozygous variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.196 | CEACAM16 | Eleanor Williams Mode of inheritance for gene: CEACAM16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.195 | CEACAM16 | Eleanor Williams Tag Q4_21_MOI tag was added to gene: CEACAM16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.195 | CEACAM16 |
Eleanor Williams edited their review of gene: CEACAM16: Added comment: Further heterozygous cases: PMID: 33040498 - Zhang et al 2020 - a heterozygous missense mutation, c.418A>G/p. Thr140Ala in the CEACAM16 gene, segregating with the deafness in this Chinese family. Abstract only accessed. Homozygous cases: PMID: 29703829 - Booth et al 2018 - 2 Iranian families with progressive mild-to-moderate hearing loss reported, in which homozygous splice variants ( c.662-1G>C and c.37G>T) were found in CEACAM16. In both families the variant segregated with the phenotype. Heterozygous carriers had normal hearing. Both variants are absent from gnomAD and ExAC. PMID: 30514912 - Dias et al 2019 - novel and extremely rare loss-of-function variant c.436 C > T/p.(Arg146Ter) in the CEACAM16 gene segregating with post-lingual progressive autosomal recessive hearing loss in 3 individuals from a Brazilian family. This variant is predicted to significantly reduce the size of the wild type protein.; Changed publications to: 33040498, 29703829, 30514912; Changed phenotypes to: Deafness, autosomal recessive 113, OMIM:618410, deafness, autosomal recessive 113, MONDO:0032732, Deafness, autosomal dominant 4B, OMIM:614614, autosomal dominant nonsyndromic deafness 4B, MONDO:0013823; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Monogenic hearing loss v1.89 | CEACAM16 | Eleanor Williams Publications for gene: CEACAM16 were set to PMID:16139472; 21368133; 7655461 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.88 | CEACAM16 | Eleanor Williams Mode of inheritance for gene: CEACAM16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.87 | CEACAM16 | Eleanor Williams Classified gene: CEACAM16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.87 | CEACAM16 | Eleanor Williams Added comment: Comment on list classification: Changed rating from red to green. 3 unrelated cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.87 | CEACAM16 | Eleanor Williams Gene: ceacam16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.86 | CEACAM16 | Eleanor Williams commented on gene: CEACAM16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.59 | CEACAM16 | Emma Ashton reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: ; Publications: 21368133, 25589040, 26648831; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||