Ataxia and cerebellar anomalies - narrow panel
Gene: TMEM5

TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 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, 4:08 p.m.

Created: 9 May 2019, 4:08 p.m.

Panel version: 1.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Tags

new-gene-name

OMIM

605862

Clinvar variants

Variants in TMEM5

Penetrance

None

Publications

23217329

Panels with this gene

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.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM5 was added gene: TMEM5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM5 were set to 23217329 Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Ataxia and cerebellar anomalies - narrow panel Gene: TMEM5