Activity
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14 actions
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| Monogenic hearing loss v5.49 | MT-TL1 | Ida Ertmanska Tag technical-limitations tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.49 | MT-TL1 |
Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-TL1. Tag Q2_25_expert_review was removed from gene: MT-TL1. Tag Q2_25_ NHS_review was removed from gene: MT-TL1. |
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| Monogenic hearing loss v5.49 | MT-TL1 | Ida Ertmanska commented on gene: MT-TL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.15 | MT-TL1 | Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.15 | MT-TL1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, there is sufficient evidence available for the association of m.3243A>G variant with sensorineural hearing loss. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.15 | MT-TL1 | Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.14 | MT-TL1 | Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; maternally-inherited diabetes and deafness, MONDO:0010785; Sensorineural hearing impairment, HP:0000407 to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; maternally-inherited diabetes and deafness, MONDO:0010785; Sensorineural hearing impairment, HP:0000407 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.13 | MT-TL1 | Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; maternally-inherited diabetes and deafness, MONDO:0010785; Sensorineural hearing impairment, HP:0000407 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.12 | MT-TL1 | Achchuthan Shanmugasundram Publications for gene: MT-TL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.11 | MT-TL1 | Achchuthan Shanmugasundram Mode of inheritance for gene: MT-TL1 was changed from to MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.10 | MT-TL1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1. Tag Q2_25_expert_review tag was added to gene: MT-TL1. Tag Q2_25_ NHS_review tag was added to gene: MT-TL1. |
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| Monogenic hearing loss v5.10 | MT-TL1 | Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22403016, 23355809, 35455034; Phenotypes: MELAS syndrome caused by mutation in MTTL1, MONDO:0800032, maternally-inherited diabetes and deafness, MONDO:0010785, Sensorineural hearing impairment, HP:0000407; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.10 | MT-TL1 | Katherine Schon reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22403016, 35455034, 23355809; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.50 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||