| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Classified gene: GPR156 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there are three unrelated families with biallelic (either homozygous or compound heterozygous) GPR156 variants reported with congenital nonsyndromic bilateral sensorineural hearing loss. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.18 | GPR156 | Achchuthan Shanmugasundram Gene: gpr156 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.17 | GPR156 | Achchuthan Shanmugasundram Phenotypes for gene: GPR156 were changed from sensorineural hearing loss disorder, MONDO:0020678 to sensorineural hearing loss disorder, MONDO:0020678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.17 | GPR156 | Achchuthan Shanmugasundram Phenotypes for gene: GPR156 were changed from sensorineural hearing loss to sensorineural hearing loss disorder, MONDO:0020678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.16 | GPR156 | Achchuthan Shanmugasundram Publications for gene: GPR156 were set to 36928819 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.15 | GPR156 | Achchuthan Shanmugasundram Publications for gene: GPR156 were set to PMID:36928829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.14 | GPR156 | Achchuthan Shanmugasundram Tag Q3_23_NHS_review tag was added to gene: GPR156. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.14 | GPR156 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: GPR156. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.14 | GPR156 | Achchuthan Shanmugasundram reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: 36928819; Phenotypes: sensorineural hearing loss disorder, MONDO:0020678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.14 | GPR156 |
Andrew Mumford gene: GPR156 was added gene: GPR156 was added to Monogenic hearing loss. Sources: Research Mode of inheritance for gene: GPR156 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPR156 were set to PMID:36928829 Phenotypes for gene: GPR156 were set to sensorineural hearing loss Penetrance for gene: GPR156 were set to Complete Review for gene: GPR156 was set to GREEN Added comment: The association between biallelic LoF variants in GPR156 and non-syndromic sensorineural hearing loss was identified in an association analysis in the 100KGP RD main programme in two pedigrees and replicated in a further large independent pedigree (reported in PMID:36928819). A causal association is supported by replication of the phenotype in a GPR156-/- mouse model and credible mechanistic evidence in primary cel cultures (PMID:34001891). Sources: Research |
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