Activity
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12 actions
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| Monogenic hearing loss v5.49 | XPA | Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: XPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.49 | XPA | Ida Ertmanska reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.48 | XPA |
Ida Ertmanska Source Expert Review Green was added to XPA. Source NHS GMS was added to XPA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v4.78 | XPA | Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: XPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.78 | XPA | Sarah Leigh Classified gene: XPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.78 | XPA | Sarah Leigh Gene: xpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.77 | XPA | Sarah Leigh Mode of inheritance for gene: XPA was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.76 | XPA | Sarah Leigh Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A, OMIM: 278700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.75 | XPA | Sarah Leigh Added comment: Comment on publications: PMID: 39621777 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 v4.75 | XPA | Sarah Leigh Publications for gene: XPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.74 | XPA | Sarah Leigh reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 39621777; Phenotypes: Xeroderma pigmentosum, group A, OMIM: 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.161 | AP1S1 |
Ivone Leong gene: AP1S1 was added gene: AP1S1 was added to Hearing loss. Sources: Literature Q2_21_rating tags were added to gene: AP1S1. Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 32306098; 15668823; 19057675; 23423674; 30244301 Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure; MEDNIK syndrome, OMIM:609313 Review for gene: AP1S1 was set to GREEN Added comment: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene is also Amber with a recommendation to promote to Green on the Intestinal failure panel (Version 1.40) with the following reviews: " Established gene-disease association with MEDNIK syndrome - PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease - 2 consanguineous families, each carrying a homozygous missense AP1S1 variant - AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense variants. Sources: Literature Zornitza Stark (Australian Genomics), 5 Oct 2020" "This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team it was decided that it was appropriate to consider all evidence (including the cases that have an intestinal phenotype for this gene - MEDNIK syndrome), therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review." After discussion with the Genomics England Clinical Team it was decided that this gene should also be included in this panel. Sources: Literature |
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