Bilateral congenital or childhood onset cataracts
Gene: TMEM5
TMEM5 (transmembrane protein 5)
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000118600
EnsemblGeneIds (GRCh37): ENSG00000118600
OMIM: 605862, Gene2Phenotype
TMEM5 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1Created: 21 Mar 2018, 1:14 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.Created: 27 Jun 2016, 4:31 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
- Tags
- OMIM
- 605862
- Clinvar variants
- Variants in TMEM5
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Fetal anomalies
- Cerebral vascular malformations
- Structural eye disease
- Hydrocephalus
- Familial Neural Tube Defects
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Congenital muscular dystrophy
History Filter Activity
27 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jun 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM5 was added to Cataractspanel. Sources: Other
27 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TMEM5 was created by ellenmcdonagh