Photosensitivity Syndromes

Gene: RECQL

Amber List (moderate evidence)

RECQL (RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000004700
EnsemblGeneIds (GRCh37): ENSG00000004700
OMIM: 600537, Gene2Phenotype
RECQL is in 2 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

PMID: 35025765
- Homozygous missense variants identified in two seemingly unrelated families with genome instability disorder. Both families had the same missense variant. Phenotype was progeriod facial features, skin photosensitivity, xeroderma, and slender elongated thumbs.
Sources: Literature
Created: 3 Mar 2022, 1:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Photosensitivity
  • facial dysmorphism
  • xeropthalmia
  • skeletal abnormalities
OMIM
600537
Clinvar variants
Variants in RECQL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: recql has been classified as Amber List (Moderate Evidence).

27 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: recql has been classified as Amber List (Moderate Evidence).

3 Mar 2022, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: RECQL was added gene: RECQL was added to Photosensitivity Syndromes. Sources: Literature Mode of inheritance for gene: RECQL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL were set to PMID: 35025765 Phenotypes for gene: RECQL were set to Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities Review for gene: RECQL was set to AMBER