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  3. TMEM94
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Congenital Heart Defect

Gene: TMEM94

Green List (high evidence)
TMEM94 (transmembrane protein 94)
EnsemblGeneIds (GRCh38): ENSG00000177728
EnsemblGeneIds (GRCh37): ENSG00000177728
TMEM94 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ten individuals from 6 unrelated families reported, variety of congenital heart defects in addition to ID (ASD, VSD, Tetralogy of Fallot).
Sources: Expert list
Created: 1 Jul 2020, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
30526868

Publications

  • Intellectual developmental disorder with cardiac defects and dysmorphic facies

Created: 1 Jul 2020, 10:40 a.m.

Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 30526868
Clinvar variants
Variants in TMEM94
Penetrance
None
Publications
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem94 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem94 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM94 was added gene: TMEM94 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies Phenotypes for gene: TMEM94 were set to 30526868 Review for gene: TMEM94 was set to GREEN