Incidentalome_PREGEN_DRAFT
Gene: TMEM43
TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: unclear whether disease presents in childhood - needs reviewCreated: 20 Jan 2021, 5:06 a.m. | Last Modified: 20 Jan 2021, 5:06 a.m.
Panel Version: 0.19
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NSW Health Pathology
- OMIM
- 612048
- Clinvar variants
- Variants in TMEM43
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Deafness_Isolated
- Arrhythmogenic Cardiomyopathy
- Additional findings_Paediatric
- Additional findings_Adult
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
History Filter Activity
20 Jan 2021, Gel status: 2
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: tmem43 has been classified as Amber List (Moderate Evidence).
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMEM43 was added gene: TMEM43 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: TMEM43 was set to Unknown