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DDG2P
Gene: TRAF7

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TRAF7-related developmental delay congenital anomalies and dysmorphic features are strong, monoallelic_autosomal and undetermined (PMIDs: 29961569, 32376980, 32459067, 33043583, 34247275, 34513876, 35684978, 35733823, 37067385). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02612.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

The 'watchlist' tag was removed as there is only one gene-disease association currently present in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).
Created: 7 Oct 2023, 8:21 a.m. | Last Modified: 7 Oct 2023, 8:22 a.m.

Panel Version: 3.61

The DDG2P confidence category for the disease Developmental Delay Congenital Anomalies and Dysmorphic Features is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:29961569).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0032572; TRAF7-related developmental delay congenital anomalies and dysmorphic features; Developmental Delay Congenital Anomalies and Dysmorphic Features; OMIM:618164.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 7 Oct 2023, 8:22 a.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism).
Created: 19 Apr 2019, 3:40 p.m.

New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
Created: 19 Apr 2019, 3:34 p.m.

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 4:54 p.m.

DDG2P rating for Developmental delay, congenital malformations and dysmorphism: probable. DDG2P Mode of inheritance: monoallelic. DDG2P mode of pathogenicity: all missense/in frame.

DDG2P rating for Developmental Delay, Congenital Anomalies, and Dysmorphic Features: confirmed. DDG2P Mode of inheritance: monoallelic. DDG2P mode of pathogenicity: all missense/in frame.

Created: 19 Nov 2018, 11:31 a.m.

Created: 19 Nov 2018, 11:31 a.m.

Panel version: 1.33

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Developmental Delay Congenital Anomalies and Dysmorphic Features

OMIM

606692

Clinvar variants

Variants in TRAF7

Penetrance

None

Publications

29961569

Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TRAF7 was changed from Other to None

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TRAF7 were changed from Developmental Delay Congenital Anomalies and Dysmorphic Features to Developmental Delay Congenital Anomalies and Dysmorphic Features

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: TRAF7.

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TRAF7 were changed from Developmental Delay Congenital Anomalies and Dysmorphic Features to Developmental Delay Congenital Anomalies and Dysmorphic Features

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Developmental delay, congenital malformations and dysmorphism to Developmental Delay Congenital Anomalies and Dysmorphic Features

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene TRAF7 was changed from Other - please provide details in the comments to Other

19 Apr 2019, Gel status: 3