Primary ovarian insufficiency
Gene: RECQL4
RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Some RTS patients have had children, so POI is not universal.
RTS patients are noted for other features than POI.Created: 9 Jun 2017, 4:27 p.m.
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red for consistency with other DNA breakage diseases: although POI can be part of the clinical spectrum, it is not universal and patients would present with other featuresCreated: 22 Jun 2017, 1:50 p.m.
Comment when marking as ready: Marked as green as gonadal problems can be part of the syndromeCreated: 30 May 2017, 12:45 p.m.
POI can be a feature of Rothmund-Thomson syndrome
Created: 26 May 2017, 11:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Rothmund-Thomson syndrome 268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cutaneous photosensitivity with a likely genetic cause
- Bilateral congenital or childhood onset cataracts
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Intellectual disability
- Fetal anomalies
- DDG2P
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
22 Jun 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Jun 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
31 May 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
30 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)RECQL4 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)RECQL4 was created by arianna