Hydrocephalus
Gene: TMEM5EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 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 enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1Created: 21 Mar 2018, 1:14 p.m.
Helen Brittain (Genomics England Curator)
As per CMD panel. Macrocephaly and hydrocephalus reported.Created: 9 May 2017, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
- Tags
- OMIM
- 605862
- Clinvar variants
- Variants in TMEM5
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Familial Neural Tube Defects
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TMEM5.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)TMEM5 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)TMEM5 was created by helen.brittain