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  2. Congenital muscular dystrophy and congenital myopathy
  3. TMEM5
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Congenital muscular dystrophy and congenital myopathy

Gene: TMEM5

Green List (high evidence)
TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 panels

4 reviews

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Created: 29 Apr 2019, 3:27 p.m.

Copied from panel: Congenital muscular dystrophy v3.92

Louise Daugherty (Genomics England Curator)

I don't know

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 RXYLT1
Created: 21 Mar 2018, 1:14 p.m.
Created: 21 Mar 2018, 1:14 p.m.

Copied from panel: Congenital muscular dystrophy v3.92

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.
Created: 19 Dec 2016, 2:33 p.m.

Copied from panel: Congenital muscular dystrophy v3.92

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

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

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Tags
new-gene-name
OMIM
605862
Clinvar variants
Variants in TMEM5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: TMEM5 was added gene: TMEM5 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH new-gene-name tags were added to gene: TMEM5. Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM5 were set to 16282978 Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 Penetrance for gene: TMEM5 were set to Complete