Congenital muscular dystrophy
Gene: TMEM5EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 panels
4 reviews
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 10, 615041
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1Created: 21 Mar 2018, 1:14 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber to green due to expert review and additional curation. More than 3 cases/families reported.Created: 19 Dec 2016, 2:33 p.m.
Emma Clement (Great Ormond Street Hospital)
WWs/ MEB type phenotype. Cobblestone lissencephaly.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- 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
- Publications
- 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
Removed Source
Arina Puzriakova (Genomics England Curator)Source was removed from TMEM5.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene TMEM5 were changed from to 16282978
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TMEM5.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to TMEM5. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TMEM5 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM5 was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM5 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM5 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen