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  3. TRAF7
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Fetal anomalies

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

2 reviews

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: Imported from Congenital Heart Defect panel version 0.105

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

7 unrelated families with functional evidence
Created: 9 Dec 2019, 11:48 a.m. | Last Modified: 9 Dec 2019, 11:48 a.m.
Panel Version: 0.1061

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 9 Dec 2019, 11:48 a.m.
Last Modified: 9 Dec 2019, 11:48 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1061

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review
  • Expert list
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
OMIM
606692
Clinvar variants
Variants in TRAF7
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

23 Feb 2022, 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).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164 to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAF7 were set to 29961569

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAF7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAF7 was added gene: TRAF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164 Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments