Primary ovarian insufficiency
Gene: RCBTB1
RCBTB1 (RCC1 and BTB domain containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000136144
EnsemblGeneIds (GRCh37): ENSG00000136144
OMIM: 607867, Gene2Phenotype
RCBTB1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000136144
EnsemblGeneIds (GRCh37): ENSG00000136144
OMIM: 607867, Gene2Phenotype
RCBTB1 is in 2 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as POI was described in one family only (27486781)Created: 30 May 2017, 12:36 p.m.
POI is part of the syndrome. 1 mutation reported in one Turkish family
Created: 26 May 2017, 11:03 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Retinal dystrophy with or without extraocular anomalies 617175
- OMIM
- 607867
- Clinvar variants
- Variants in RCBTB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 2
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: 2
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
30 May 2017, Gel status: 2
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)RCBTB1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)RCBTB1 was created by arianna