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  2. Hydrocephalus_Ventriculomegaly
  3. FMR1
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Hydrocephalus_Ventriculomegaly

Gene: FMR1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find link to hydrocephalus, macrocephaly is a feature.
Created: 7 Aug 2020, 11:49 p.m. | Last Modified: 7 Aug 2020, 11:49 p.m.
Panel Version: 0.29

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, MIM# 300624

Created: 7 Aug 2020, 11:49 p.m.
Last Modified: 7 Aug 2020, 11:49 p.m.
Panel version: 0.29

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Fragile X syndrome, MIM# 300624
Tags
STR
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None
Panels with this gene

History Filter Activity

7 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fmr1 has been classified as Red List (Low Evidence).

7 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FMR1 were changed from to Fragile X syndrome, MIM# 300624

7 Aug 2020, Gel status: 1

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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

7 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fmr1 has been classified as Red List (Low Evidence).

17 Apr 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: FMR1.

17 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 Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FMR1 was set to Unknown