Activity
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| Monogenic hearing loss v5.49 | LHX3 | Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: LHX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.49 | LHX3 | Ida Ertmanska reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.48 | LHX3 |
Ida Ertmanska Source Expert Review Green was added to LHX3. Source NHS GMS was added to LHX3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v4.70 | LHX3 | Achchuthan Shanmugasundram Classified gene: LHX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.70 | LHX3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.70 | LHX3 | Achchuthan Shanmugasundram Gene: lhx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.69 | LHX3 | Achchuthan Shanmugasundram Mode of inheritance for gene: LHX3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.68 | LHX3 | Achchuthan Shanmugasundram Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, OMIM:221750; sensorineural hearing loss disorder, MONDO:0020678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.67 | LHX3 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39548529 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.67 | LHX3 | Achchuthan Shanmugasundram Publications for gene: LHX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.66 | LHX3 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: LHX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.66 | LHX3 |
Achchuthan Shanmugasundram changed review comment from: PMID:10835633 reported two unrelated families with combined pituitary hormone deficiency and with biallelic LHX3 variants. The three patients from a family identified with p.Tyr116Cys variant had mild-moderate bilateral sensorineural hearing loss, while the patient with 23bp deletion had profound sensorineural deafness, when re-investigated in PMID:18407919. PMID:18407919 reported two families with novel recessive variants in LHX3 gene. They all exhibited varying degrees of bilateral sensorineural hearing loss. PMID:39548529 reported a group of eight patients with combined pituitary hormone deficiency-3 and all of them were identified with the same homozygous variant, c.455-2A > G. They presented with progressive sensorineural hearing deficiency ranging from moderately severe to complete loss. This variant was also associated with vestibular impairment.; to: PMID:10835633 reported two unrelated families with combined pituitary hormone deficiency and with biallelic LHX3 variants. The three patients from a family identified with p.Tyr116Cys variant had mild-moderate bilateral sensorineural hearing loss, while the patient with 23bp deletion had profound sensorineural deafness, when re-investigated in PMID:18407919. PMID:18407919 reported two families with novel recessive variants in LHX3 gene. They all exhibited varying degrees of bilateral sensorineural hearing loss. PMID:39548529 reported a group of eight patients with combined pituitary hormone deficiency-3 and all of them were identified with the same homozygous variant, c.455-2A > G. They presented with progressive sensorineural hearing deficiency ranging from moderately severe to complete loss. This variant is present as a founder variant in the population in Northern Sweden and was also associated with vestibular impairment. |
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| Monogenic hearing loss v4.66 | LHX3 | Achchuthan Shanmugasundram reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835633, 18407919, 39548529; Phenotypes: Pituitary hormone deficiency, combined, 3, OMIM:221750, sensorineural hearing loss disorder, MONDO:0020678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||