Hydrocephalus
Gene: FMR1EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment on list classification: As per consensus agreement on structural neurological disorders webex on 11th July 2019Created: 19 Jul 2019, 1:36 p.m. | Last Modified: 19 Jul 2019, 1:36 p.m.
Panel Version: 1.32
This gene was reviewed on the structural neurological disorders working group webex on 11th July. Although initially included on this panel in view of relative macrocephaly, this is not within the remit of the hydrocephalus panel for the GMS. In view of a lack of phenotypic relevance for SNVs and hydrocephalus, this gene was downgraded to red.Created: 19 Jul 2019, 1:35 p.m. | Last Modified: 19 Jul 2019, 1:35 p.m.
Panel Version: 1.31
Comment when marking as ready: STR mechanism.Created: 11 May 2017, 8:36 a.m.
Macrocephaly a common feature. STR mechanism.Created: 11 May 2017, 8:35 a.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
Mode of pathogenicity
Other
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
-
- NHS GMS
- Expert Review Red
- UKGTN
- Literature
- Phenotypes
-
- Fragile X syndrome, OMIM:300624
- Tags
- OMIM
- 309550
- Clinvar variants
- Variants in FMR1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable was removed from gene: FMR1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FMR1 were changed from Fragile X syndrome 300624 to Fragile X syndrome, OMIM:300624
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: FMR1. Tag currently-ngs-unreportable tag was added to gene: FMR1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FMR1.
Entity classified by Genomics England curator
Helen Brittain (Genomics England Curator)Gene: fmr1 has been classified as Red List (Low Evidence).
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)FMR1 was added to Hydrocephaluspanel. Sources: Literature,UKGTN
Created
Helen Brittain (Genomics England Curator)FMR1 was created by helen.brittain