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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. CPEB1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: CPEB1

Amber List (moderate evidence)
CPEB1 (cytoplasmic polyadenylation element binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000214575
EnsemblGeneIds (GRCh37): ENSG00000214575
OMIM: 607342, Gene2Phenotype
CPEB1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Created: 29 Nov 2021, 10:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 29 Nov 2021, 10:51 p.m.

Panel version: 0.241

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Tags
SV/CNV
OMIM
607342
Clinvar variants
Variants in CPEB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cpeb1 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cpeb1 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CPEB1 was added gene: CPEB1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature SV/CNV tags were added to gene: CPEB1. Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780 Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency Review for gene: CPEB1 was set to AMBER