Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PQLC2

Green List (high evidence)

PQLC2 (PQ loop repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000040487
EnsemblGeneIds (GRCh37): ENSG00000040487
OMIM: 614760, Gene2Phenotype
PQLC2 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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: Literature
Created: 29 Apr 2024, 9:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa, MONDO:0019200

Publications

  • PMID: 35486108
  • and online publication GiM Feb 2024

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, PQLC2-related
Tags
new gene name
OMIM
614760
Clinvar variants
Variants in PQLC2
Penetrance
None
Publications
  • PMID: 35486108
  • and online publication GiM Open Feb 2024
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pqlc2 has been classified as Green List (High Evidence).

30 Apr 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PQLC2 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, PQLC2-related

30 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024

30 Apr 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: PQLC2.

29 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pqlc2 has been classified as Green List (High Evidence).

29 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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