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Inborn errors of metabolism

Gene: TMEM5

Green List (high evidence)

TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 19 panels

1 review

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for TMEM5 is RXYLT1
Created: 9 May 2019, 4:07 p.m.

History Filter Activity

9 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: TMEM5.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 for gene: TMEM5 Publications for gene TMEM5 were changed from to 27212206

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM5 was added gene: TMEM5 was added to Inborn errors of metabolism. Sources: Expert Review Green 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