Hydrocephalus
Gene: FMR1
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
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
Tag currently-ngs-unreportable was removed from gene: FMR1.
Phenotypes for gene: FMR1 were changed from Fragile X syndrome 300624 to Fragile X syndrome, OMIM:300624
Tag nucleotide-repeat-expansion tag was added to gene: FMR1. Tag currently-ngs-unreportable tag was added to gene: FMR1.
Source NHS GMS was added to FMR1.
Gene: fmr1 has been classified as Red List (Low Evidence).
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FMR1 was added to Hydrocephaluspanel. Sources: Literature,UKGTN
FMR1 was created by helen.brittain