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Limb disorders v2.67 TRAF7 Eleanor Williams Tag for-review was removed from gene: TRAF7.
Limb disorders v2.67 TRAF7 Eleanor Williams commented on gene: TRAF7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that the penetrance of limb defects seems low and dev delay main feature - gene is already green on R29 (Intellectual disability) and R27 (Paediatric disorders) panels.
Limb disorders v2.32 TRAF7 Eleanor Williams Classified gene: TRAF7 as Amber List (moderate evidence)
Limb disorders v2.32 TRAF7 Eleanor Williams Added comment: Comment on list classification: Leaving the rating at amber for now, but with recommendation for green rating following GMS review as there are now several more cases with hand anomalies relevant to this panel reported in the publication from Castilla-Vallmanya et al 2020
Limb disorders v2.32 TRAF7 Eleanor Williams Gene: traf7 has been classified as Amber List (Moderate Evidence).
Limb disorders v2.31 TRAF7 Eleanor Williams Tag for-review tag was added to gene: TRAF7.
Limb disorders v2.31 TRAF7 Eleanor Williams edited their review of gene: TRAF7: Added comment: PMID: 32376980 - Castilla-Vallmanya et al 2020 - report on a set of 45 patients with a developmental delay-malformation syndrome in which heterozygous missense variants in TRAF7 were identified. Variable anomalies of the hands were reported including brachydactyly (n = 6), and syndactyly (n = 5).; Changed publications: 32376980; Changed phenotypes: developmental delay-malformation syndrome, brachydactyly, syndactyly
Limb disorders v1.137 TRAF7 Eleanor Williams Tag missense tag was added to gene: TRAF7.
Limb disorders v1.121 TRAF7 Eleanor Williams changed review comment from: Comment on list classification: From Genomics England clinical team - there is evidence of a gene:disease association, however the reported limb differences (distal contractures, altered creases or overlapping digits) do not particularly align with the clinical indication for this panel. One subject in the paper has quite marked radial / ulnar directional deformities of the digits though, therefore amber.; to: Comment on list classification: From Genomics England clinical team - there is evidence of a gene:disease association, however the reported limb differences (distal contractures, altered creases or overlapping digits) do not particularly align with the clinical indication for this panel. One subject in the paper has quite marked radial / ulnar directional deformities of the digits though, therefore amber. Green on Intellectual disability, fetal anomalies, DDG2P panels.
Limb disorders v1.121 TRAF7 Eleanor Williams Classified gene: TRAF7 as Amber List (moderate evidence)
Limb disorders v1.121 TRAF7 Eleanor Williams Added comment: Comment on list classification: From Genomics England clinical team - there is evidence of a gene:disease association, however the reported limb differences (distal contractures, altered creases or overlapping digits) do not particularly align with the clinical indication for this panel. One subject in the paper has quite marked radial / ulnar directional deformities of the digits though, therefore amber.
Limb disorders v1.121 TRAF7 Eleanor Williams Gene: traf7 has been classified as Amber List (Moderate Evidence).
Limb disorders v1.39 TRAF7 Eleanor Williams Publications for gene: TRAF7 were set to
Limb disorders v1.38 TRAF7 Eleanor Williams Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, 618164; Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Limb disorders v1.37 TRAF7 Eleanor Williams changed review comment from: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.

PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains.

All 7 subjects had limb and digital anomalies to a variable degree, including variant palmar/digital crease patterns (n = 6) and overlapping toes (n = 5) and clinodactyly (n=3). One subject (Subject 3) had more extensive involvement of the musculoskeletal system including scoliosis with degenerative joint disease, an asymmetric sternum, bilateral avascular necrosis of the hip, tibial malformation, valgus deformity of the ankles, flexion contractures of the hands, and subluxation of multiple joints in the hands and feet.; to: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.

PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains.
All 7 subjects had limb and digital anomalies to a variable degree, including variant palmar/digital crease patterns (n = 6) and overlapping toes (n = 5) and clinodactyly (n=3). One subject (Subject 3) had more extensive involvement of the musculoskeletal system including scoliosis with degenerative joint disease, an asymmetric sternum, bilateral avascular necrosis of the hip, tibial malformation, valgus deformity of the ankles, flexion contractures of the hands, and subluxation of multiple joints in the hands and feet.
Limb disorders v1.37 TRAF7 Eleanor Williams changed review comment from: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.; to: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.

PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains.

All 7 subjects had limb and digital anomalies to a variable degree, including variant palmar/digital crease patterns (n = 6) and overlapping toes (n = 5) and clinodactyly (n=3). One subject (Subject 3) had more extensive involvement of the musculoskeletal system including scoliosis with degenerative joint disease, an asymmetric sternum, bilateral avascular necrosis of the hip, tibial malformation, valgus deformity of the ankles, flexion contractures of the hands, and subluxation of multiple joints in the hands and feet.
Limb disorders v1.35 TRAF7 Eleanor Williams commented on gene: TRAF7: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.
Limb disorders v1.24 TRAF7 Andrew Wilkie reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.17 TRAF7 Eleanor Williams gene: TRAF7 was added
gene: TRAF7 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: TRAF7 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list