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Genetic Epilepsy

Gene: TMEM5

Red List (low evidence)

TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 14 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Alt, gene name RXYLT1

No literature showing SNVs in this gene and epilepsy/seizures. Gene was listed in the Oliver review
Sources: Literature
Created: 1 Feb 2024, 9:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

1 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: tmem5 has been classified as Red List (Low Evidence).

1 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: TMEM5 was added gene: TMEM5 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041 Review for gene: TMEM5 was set to RED