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
-
- Intellectual disability
- Cerebellar hypoplasia
- Bilateral congenital or childhood onset cataracts
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Hydrocephalus
- Likely inborn error of metabolism
- Familial Neural Tube Defects
- Congenital disorders of glycosylation
- Arthrogryposis
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- DDG2P
- Malformations of cortical development
- Congenital muscular dystrophy
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