Congenital muscular dystrophy
Gene: TMEM5
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
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.
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.
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
Source was removed from TMEM5.
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
Publications for gene TMEM5 were changed from to 16282978
Source NHS GMS was added to TMEM5.
Source London South GLH was added to TMEM5. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TMEM5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TMEM5 was added to Congenital muscular dystrophypanel. Source:
TMEM5 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
TMEM5 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen