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Intellectual disability syndromic and non-syndromic

Gene: FMR1

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen GCEP on 03/06/2019 - https://search.clinicalgenome.org/CCID:004870

Known unstable expanded trinucleotide (CGG)n repeat sequence of greater than 200 repeats in the 5' UTR region of FMR1
Created: 14 May 2024, 4:13 a.m. | Last Modified: 14 May 2024, 4:13 a.m.
Panel Version: 0.5821

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
fragile X syndrome MONDO:0010383

Publications

  • https://search.clinicalgenome.org/CCID:004870

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • fragile X syndrome MONDO:0010383
Tags
STR
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:004870
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fmr1 has been classified as Green List (High Evidence).

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FMR1 were changed from to fragile X syndrome MONDO:0010383

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FMR1 were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FMR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Apr 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: FMR1.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FMR1 was added gene: FMR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FMR1 was set to Unknown