Photosensitivity Syndromes
Gene: RECQLEnsemblGeneIds (GRCh38): ENSG00000004700
EnsemblGeneIds (GRCh37): ENSG00000004700
OMIM: 600537, Gene2Phenotype
RECQL is in 2 panels
1 review
Dean Phelan (Victorian Clinical Genetics Services)
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: LiteratureCreated: 3 Mar 2022, 1:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities
Publications
- PMID: 35025765
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
-
- PMID: 35025765
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: recql has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: recql has been classified as Amber List (Moderate Evidence).
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