Retinal disorders
Gene: PQLC2EnsemblGeneIds (GRCh38): ENSG00000040487
EnsemblGeneIds (GRCh37): ENSG00000040487
OMIM: 614760, Gene2Phenotype
PQLC2 is in 1 panel
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
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.Created: 28 May 2024, 9:29 a.m. | Last Modified: 28 May 2024, 9:29 a.m.
Panel Version: 5.6
HGNC Gene Symbol: SLC66A1. Hence, 'new-gene-name' tag added.Created: 28 May 2024, 9:11 a.m. | Last Modified: 28 May 2024, 9:11 a.m.
Panel Version: 5.5
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: LiteratureCreated: 28 May 2024, 9:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Retinitis pigmentosa, MONDO:0019200
- Tags
- OMIM
- 614760
- Clinvar variants
- Variants in PQLC2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: PQLC2.
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: PQLC2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)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)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pqlc2 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: PQLC2.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag new-gene-name tag was added to gene: PQLC2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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