Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: PQLC2
HGNC Gene Symbol: SLC66A1
Total 8 individuals from 6 families.
Millo et al. (2022)(PMID: 35486108) -
WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 2 different homozygous variants in SLC66A1 in 3 individuals from 2 families with adult-onset retinal dystrophy. No functional data.
Olinger et al. (2024)(https://www.sciencedirect.com/science/article/pii/S2949774424009804) -
CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. They identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy (parents HTZ carriers). Review of cohort data then identified homozygous LOF variants (1 nonsense, 2 frameshift) in another 3 individuals with rod-cone dystrophy.
Sources: LiteratureCreated: 29 Apr 2024, 9:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: pqlc2 has been classified as Green List (High Evidence).
Phenotypes for gene: PQLC2 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, PQLC2-related
Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024
Tag new gene name tag was added to gene: PQLC2.
Gene: pqlc2 has been classified as Green List (High Evidence).
gene: PQLC2 was added gene: PQLC2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024 Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: PQLC2 was set to GREEN gene: PQLC2 was marked as current diagnostic