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  2. Congenital Heart Defect
  3. TRAF7
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Congenital Heart Defect

Gene: TRAF7

Green List (high evidence)
TRAF7 (TNF receptor associated factor 7)
EnsemblGeneIds (GRCh38): ENSG00000131653
EnsemblGeneIds (GRCh37): ENSG00000131653
OMIM: 606692, Gene2Phenotype
TRAF7 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 40 individuals reported with DD/ID and a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent.
Sources: Expert Review
Created: 5 Jun 2021, 7:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164

Publications

Created: 5 Jun 2021, 7:41 a.m.

Panel version: 0.105

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
OMIM
606692
Clinvar variants
Variants in TRAF7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: traf7 has been classified as Green List (High Evidence).

5 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: traf7 has been classified as Green List (High Evidence).

5 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAF7 was added gene: TRAF7 was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRAF7 were set to 32376980 Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Review for gene: TRAF7 was set to GREEN