Structural eye disease
Gene: TMEM5
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
Alharbi et al. 2021, 3 families with Walker-Warburg syndrome and homozygous pathogenic TMEM5 variants, with affected individuals in all three families presenting with microphthalmia. No mention of structural eye anomalies in original paper (Vuillaumier-Barrot et al. 2012). Jae et al. 2013 describe 3 families with biallelic pathogenic TMEM5 variants (all parents heterozygous), affected individuals in 2/3 families have microphthalmia.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
There are only 6 papers on PubMed. WALKER-WARBURG syndrome only includes retinal dysplasiaCreated: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10
Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 18 May 2022, 2:06 p.m. | Last Modified: 18 May 2022, 2:06 p.m.
Panel Version: 1.129
Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1Created: 23 Apr 2019, 2:01 p.m.
Tag Q2_22_rating was removed from gene: TMEM5. Tag Q2_22_NHS_review was removed from gene: TMEM5.
Source Expert Review Green was added to TMEM5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tmem5 has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: TMEM5. Tag Q2_22_NHS_review tag was added to gene: TMEM5.
Phenotypes for gene: TMEM5 were changed from Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Publications for gene: TMEM5 were set to
Source NHS GMS was added to TMEM5. Source Expert Review Red was added to TMEM5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Source Expert Review Amber was added to TMEM5. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Tag new-gene-name tag was added to gene: TMEM5.
gene: TMEM5 was added gene: TMEM5 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041