Intellectual disability syndromic and non-syndromic
Gene: TMEM5

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound ID, congenital muscular dystrophy, and death usually in the first years of life. Brain imaging shows cobblestone lissencephaly. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB).

New gene name is RXYLT1.
Created: 6 Sep 2024, 12:58 a.m. | Last Modified: 6 Sep 2024, 12:58 a.m.

Panel Version: 0.6163

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Sep 2024, 12:58 a.m.
Last Modified: 6 Sep 2024, 12:58 a.m.
Panel version: 0.6163

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

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

Tags

new gene name

OMIM

605862

Clinvar variants

Variants in TMEM5

Penetrance

None

Publications

Panels with this gene