Activity
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14 actions
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| Monogenic hearing loss v6.13 | PLCG1 | Ida Ertmanska commented on gene: PLCG1: Comment on list classification: There are now 3 unrelated individuals with heterozygous PLCG1 variants and hearing loss. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.10 | PLCG1 | Ida Ertmanska Phenotypes for gene: PLCG1 were changed from ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514; immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790 to ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514; immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790; hearing loss disorder, MONDO:0005365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.9 | PLCG1 | Ida Ertmanska Phenotypes for gene: PLCG1 were changed from hearing impairment; ophthalmologic abnormalities; cardiac septal defects to ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514; immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.8 | PLCG1 | Ida Ertmanska Publications for gene: PLCG1 were set to 38260438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.7 | PLCG1 |
Ida Ertmanska Tag watchlist was removed from gene: PLCG1. Tag Q2_26_promote_green tag was added to gene: PLCG1. |
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| Monogenic hearing loss v6.7 | PLCG1 | Ida Ertmanska reviewed gene: PLCG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37422272, 40862571; Phenotypes: ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.22 | PLCG1 | Arina Puzriakova Tag watchlist tag was added to gene: PLCG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.60 | PLCG1 | Sarah Leigh commented on gene: PLCG1: If PMID: 38260438 is accepted for publication, a green recommendation for PLCG1 would be made. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.60 | PLCG1 | Sarah Leigh changed review comment from: If PMID: 38260438 is accepted for publication, a green recommendation for PLCG1 would be made.; to: If the preprint PMID: 38260438 is accepted for publication, a green recommendation would be made for PLCG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.60 | PLCG1 | Sarah Leigh reviewed gene: PLCG1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.60 | PLCG1 | Sarah Leigh Publications for gene: PLCG1 were set to PMID: 38260438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.59 | PLCG1 | Sarah Leigh Classified gene: PLCG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.59 | PLCG1 | Sarah Leigh Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.54 | PLCG1 |
Hannah Knight gene: PLCG1 was added gene: PLCG1 was added to Monogenic hearing loss. Sources: Literature Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to PMID: 38260438 Phenotypes for gene: PLCG1 were set to hearing impairment; ophthalmologic abnormalities; cardiac septal defects Review for gene: PLCG1 was set to AMBER Added comment: Limited case info in preprint, but PMID: 38260438 (2024) reported three unrelated individuals with de novo heterozygous missense variants in PLCG1, with symptoms including deafness, ophthalmologic abnormalities, cardiac septal defects, abnormal brain MRI and immune defects Sources: Literature |
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