Hydrocephalus
Gene: FLNAEnsemblGeneIds (GRCh38): ENSG00000196924
EnsemblGeneIds (GRCh37): ENSG00000196924
OMIM: 300017, Gene2Phenotype
FLNA is in 26 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 AmberCreated: 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)
Causation is confirmed. Hydrocephalus appears to be a relatively rare feature however.Created: 9 May 2017, 1:22 p.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
Otopalatodigital syndrome, type II
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 Amber
- Literature
- Phenotypes
-
- Otopalatodigital syndrome, type II, OMIM:304120
- OMIM
- 300017
- Clinvar variants
- Variants in FLNA
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Familial Meniere Disease
- Cytopenia - NOT Fanconi anaemia
- Thoracic aortic aneurysm or dissection (GMS)
- Familial non syndromic congenital heart disease
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- Limb disorders
- DDG2P
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- COVID-19 research
- Osteogenesis imperfecta
- Clefting
- Malformations of cortical development
- Hydrocephalus
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FLNA were changed from Otopalatodigital syndrome, type II to Otopalatodigital syndrome, type II, OMIM:304120
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FLNA.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)FLNA was added to Hydrocephaluspanel. Source: Expert Review Amber
Added New Source
Helen Brittain (Genomics England Curator)FLNA was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)FLNA was created by helen.brittain