Activity
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14 actions
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| Monogenic hearing loss v4.62 | GRXCR2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GRXCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.62 | GRXCR2 | Achchuthan Shanmugasundram commented on gene: GRXCR2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.61 | GRXCR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRXCR2. Source NHS GMS was added to GRXCR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v4.47 | GRXCR2 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual from Cameroon were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants. Hence, this gene can be promoted to green rating in the next GMS update. |
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| Monogenic hearing loss v4.47 | GRXCR2 | Achchuthan Shanmugasundram Classified gene: GRXCR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.47 | GRXCR2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants. Hence, this gene can be promoted to green rating in the next GMS update. |
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| Monogenic hearing loss v4.47 | GRXCR2 | Achchuthan Shanmugasundram Gene: grxcr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.46 | GRXCR2 | Achchuthan Shanmugasundram Publications for gene: GRXCR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.45 | GRXCR2 | Achchuthan Shanmugasundram Phenotypes for gene: GRXCR2 were changed from ?Deafness, autosomal recessive 101, 615837 to ?Deafness, autosomal recessive 101, OMIM:615837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.44 | GRXCR2 | Achchuthan Shanmugasundram Mode of inheritance for gene: GRXCR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.44 | GRXCR2 | Achchuthan Shanmugasundram Mode of inheritance for gene: GRXCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.43 | GRXCR2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GRXCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.43 | GRXCR2 | Achchuthan Shanmugasundram reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24619944, 33528103; Phenotypes: ?Deafness, autosomal recessive 101, OMIM:615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.36 | GRXCR2 | Sadaf Naz reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33528103, PMID:24619944; Phenotypes: #615837: Deafness, autosomal recessive 101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||