Primary ovarian insufficiency

Gene: RECQL4

Red List (low evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 18 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

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 features
Created: 22 Jun 2017, 1:50 p.m.
Comment when marking as ready: Marked as green as gonadal problems can be part of the syndrome
Created: 30 May 2017, 12:45 p.m.
POI can be a feature of Rothmund-Thomson syndrome
Created: 26 May 2017, 11:04 a.m.

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