Fetal anomalies
Gene: FMR1

FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FMR1 gene rating from Amber to Red.
Created: 29 Apr 2019, 12:21 p.m.

Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
Created: 12 Feb 2019, 2:32 p.m.

Multiple ratings in original PAGE file: rated as confirmed for FRAGILE X SYNDROME. Rated as both DD and IF for: PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 and FRAGILE X TREMOR/ATAXIA SYNDROME.
Created: 6 Dec 2018, 9:04 a.m.

In the original PAGE file, MOI listed as Hemizgyous for FRAGILE X TREMOR/ATAXIA SYNDROME and FRAGILE X SYNDROME, and X-linked dominant for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. In the original PAGE file, MOP listed as LOF for FRAGILE X SYNDROME, MOP listed as Activating for FRAGILE X TREMOR/ATAXIA SYNDROME, and MOP listed as Uncertain for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.222

Details

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

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

Fragile X syndrome, OMIM:300624
Fragile X tremor/ataxia syndrome, OMIM:300623

OMIM

309550

Clinvar variants

Variants in FMR1

Penetrance

None

Panels with this gene

History Filter Activity

10 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FMR1 were changed from FRAGILE X SYNDROME; FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623

29 Apr 2019, Gel status: 1