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Intellectual disability syndromic and non-syndromic

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

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

Details

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

History Filter Activity

14 Jan 2020, 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).

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

9 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TRAF7 was added gene: TRAF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRAF7 were set to PMID: 29961569 Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay; OMIM #618164