Hydrocephalus

Gene: FMR1

Red List (low evidence)

FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Red
Created: 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)

Red List (low evidence)

Comment on list classification: As per consensus agreement on structural neurological disorders webex on 11th July 2019
Created: 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
  • UKGTN
  • Literature
Phenotypes
  • Fragile X syndrome 300624
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

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FMR1.

19 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

FMR1 was created by helen.brittain

11 May 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

FMR1 was added to Hydrocephaluspanel. Sources: Literature,UKGTN