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  3. TRAF7
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Clefting

Gene: TRAF7

Amber List (moderate evidence)
TRAF7 (TNF receptor associated factor 7)
EnsemblGeneIds (GRCh38): ENSG00000131653
EnsemblGeneIds (GRCh37): ENSG00000131653
OMIM: 606692, Gene2Phenotype
TRAF7 is in 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:32376980 - 45 patients were identified with heterozygous variants in TRAF7 gene, of which one patient had cleft palate and three patients had submucous cleft palate.

DECIPHER database - One of 15 patients with heterozygous sequence variants in TRAF7 gene had cleft palate as one of the clinical presentations.
Sources: Literature
Created: 22 Jun 2023, 10:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 22 Jun 2023, 10:30 a.m.

Panel version: 4.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
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

22 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: traf7 has been classified as Amber List (Moderate Evidence).

22 Jun 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TRAF7 were set to 32376980; 37010288

22 Jun 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TRAF7 were set to 32376980

22 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TRAF7 was added gene: TRAF7 was added to Clefting. Sources: Literature 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, OMIM:618164 Review for gene: TRAF7 was set to AMBER