Familial Neural Tube Defects
Gene: TMEM5
TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 panels
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1Created: 21 Mar 2018, 1:14 p.m.
Details
- Sources
-
- Other
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy
- Tags
- OMIM
- 605862
- Clinvar variants
- Variants in TMEM5
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Cerebellar hypoplasia
- Malformations of cortical development
- Likely inborn error of metabolism
- Congenital muscular dystrophy
- Undiagnosed metabolic disorders
- Structural eye disease
- Congenital disorders of glycosylation
- Familial Neural Tube Defects
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Cerebral vascular malformations
- Arthrogryposis
History Filter Activity
25 Oct 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)TMEM5 was created by oniblock
22 Sep 2016, Gel status: 0
Added New Source
Olivia Niblock (Genomics England Curator)TMEM5 was added to Familial Neural Tube Defectspanel. Sources: Other