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  3. TMEM43
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Additional findings_Adult

Gene: TMEM43

Green List (high evidence)
TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular dysplasia 5, MIM# 604400

Created: 30 Jul 2020, 10:18 a.m.
Last Modified: 30 Jul 2020, 10:18 a.m.
Panel version: 0.103

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
OMIM
612048
Clinvar variants
Variants in TMEM43
Penetrance
None
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem43 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, 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 Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TMEM43 was set to Unknown