Primary ovarian insufficiency
STR: FMR1_CGGGRCh37 Position: 146993569-146993628
GRCh38 Position: 147912051-147912110
Repeated Sequence: CGG
Normal Number of Repeats: < 55
Pathogenic Number of Repeats: = or > 200
FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 0 panels
3 reviews
Sarah Leigh (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:51 p.m. | Last Modified: 15 Mar 2022, 12:51 p.m.
Panel Version: 1.67
Louise Daugherty (Genomics England Curator)
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.Created: 6 Dec 2018, 10:24 a.m.
Ellen McDonagh (Genomics England Curator)
The normal number of Repeats was changed from 44 to 55.Created: 6 Jun 2018, 1:46 p.m.
Comments from Arianna Tucci: females with premutation or full mutation alleles can transmit full mutations to their offspring, while men with premutation or full mutation alleles can only pass on a premutation allele.Created: 31 May 2018, 1:13 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fragile X syndrome 300624
Variants in this STR are reported as part of current diagnostic practice
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- FMR1_CGG
- Chromosome
- X
- GRCh37 Coordinates
- 146993569-146993628
- GRCh38 Coordinates
- 147912051-147912110
- Repeated Sequence
- CGG
- Normal Number of Repeats: <
- 55
- Pathogenic Number of Repeats: = or >
- 200
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Expert Review Removed
- Expert list
- Phenotypes
-
- Premature ovarian failure 1, OMIM:311360
- Tags
- OMIM
- 309550
- Clinvar variants
- Variants in FMR1
- Penetrance
- None
History Filter Activity
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to STR: FMR1_CGG.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624 to Premature ovarian failure 1, OMIM:311360
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to STR: FMR1_CGG.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: fmr1_cgg has been removed from the panel.
Changed Normal Number of Repeats
Ellen McDonagh (Genomics England Curator)Normal Number of Repeats for FMR1_CGG was changed from 44 to 55. Panel: Early onset familial premature ovarian insufficiency
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: FMR1_CGG. Panel: Early onset familial premature ovarian insufficiency
Added New Source
Ellen McDonagh (Genomics England Curator)STR: FMR1_CGG was added to Early onset familial premature ovarian insufficiency panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: FMR1_CGG was created by Ellen McDonagh