Cerebellar hypoplasiaGene: TMEM5
Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1
Created: 21 Mar 2018, 1:15 p.m.
Associated with cerebellar dysplasia
Created: 16 Nov 2016, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041
22/02/2017: Panel revised after internal clinical review and further curation.
Publications for TMEM5 were set to 23217329
Mode of inheritance for TMEM5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
TMEM5 was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
TMEM5 was created by ellenmcdonagh