Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Bleeding and platelet disorders v1.33 CHST14 Arina Puzriakova Tag for-review was removed from gene: CHST14.
Bleeding and platelet disorders v1.33 CHST14 Arina Puzriakova commented on gene: CHST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote CHST14 to green.
Bleeding and platelet disorders v1.32 CHST14 Arina Puzriakova Source Expert Review Green was added to CHST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Bleeding and platelet disorders v1.7 CHST14 Arina Puzriakova Phenotypes for gene: CHST14 were changed from 601776 Ehlers-Danlos syndrome, musculocontractural type 1 to Ehlers-Danlos syndrome, musculocontractural type 1, 601776
Bleeding and platelet disorders v1.6 CHST14 Arina Puzriakova Tag for-review tag was added to gene: CHST14.
Bleeding and platelet disorders v1.6 CHST14 Arina Puzriakova reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004762, 26373698, 26646600; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v1.4 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bleeding and platelet disorders v0.77 CHST14 Louise Daugherty commented on gene: CHST14: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Bleeding and platelet disorders v0.77 TNXB Louise Daugherty changed review comment from: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review; to: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further with Haematology Test Group as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review
Bleeding and platelet disorders v0.74 TNXB Louise Daugherty gene: TNXB was added
gene: TNXB was added to Bleeding and platelet disorders. Sources: Expert Review
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; significant bruising/haematomas
Review for gene: TNXB was set to AMBER
Added comment: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review
Bleeding and platelet disorders v0.69 CHST14 Louise Daugherty commented on gene: CHST14: Discussed further with the GMS Haematology Specialist Test Group at workshop 2nd July 2019, it was agreed that Carl Fratter would review the evidence on CHST14 by contacting their Thrombogenomics team to ask if they are able to provide any information on their experience, as they have included these genes in their panel. Gene rating to be confirmed when group has this information.
Bleeding and platelet disorders v0.68 CHST14 Mandy nesbitt reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 601776 Ehlers-Danlos syndrome, musculocontractural type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Classified gene: CHST14 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Added comment: Comment on list classification: Discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: Rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Gene: chst14 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.6 CHST14 Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 CHST14 Carl Fratter reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.4 CHST14 Louise Daugherty Source NHS GMS was added to CHST14.
Bleeding and platelet disorders v0.3 CHST14 Louise Daugherty Source Expert Review Green was added to CHST14.
Mode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 601776 Ehlers-Danlos syndrome, musculocontractural type 1 for gene: CHST14
Publications for gene CHST14 were changed from to 20533528; 26373698; 25703627
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 CHST14 Louise Daugherty gene: CHST14 was added
gene: CHST14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CHST14 was set to