Malformations of cortical development

Gene: TMEM5

Green List (high evidence)

TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 18 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1
Created: 21 Mar 2018, 1:15 p.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 19 Dec 2016, 2:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041

Publications

Details

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

TMEM5 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TMEM5 was created by agardham