Activity
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11 actions
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| Retinal disorders v6.15 | PQLC2 | Arina Puzriakova Tag gene-checked tag was added to gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | PQLC2 | Sarah Leigh Tag Q2_24_promote_green was removed from gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.7 | PQLC2 | Eleanor Williams reviewed gene: PQLC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.6 | PQLC2 |
Sarah Leigh Source NHS GMS was added to PQLC2. Source Expert Review Green was added to PQLC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.6 | PQLC2 | Achchuthan Shanmugasundram Classified gene: PQLC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | PQLC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families/ cases reported with biallelic SLC66A1 variants and retinal disorders. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | PQLC2 | Achchuthan Shanmugasundram Gene: pqlc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 | Achchuthan Shanmugasundram commented on gene: PQLC2: HGNC Gene Symbol: SLC66A1. Hence, 'new-gene-name' tag added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: PQLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.5 | PQLC2 |
Achchuthan Shanmugasundram gene: PQLC2 was added gene: PQLC2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PQLC2 were set to 35486108 Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: PQLC2 was set to GREEN Added comment: PMID:35486108 reported whole-exome sequencing with targeted analysis of SLC genes in 913 cases from 785 families with inherited retinal dystrophy. This identified 2 different homozygous variants in SLC66A1 in three individuals from two families with adult-onset retinal dystrophy. Olinger et al. (2024) (https://www.sciencedirect.com/science/article/pii/S2949774424009804) reported CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. This identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy, while parents are heterozygous carriers. Review of cohort data then identified homozygous loss-of-function variants (1 nonsense, 2 frameshift) in another 3 unrelated individuals with rod-cone dystrophy. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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