| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bleeding and platelet disorders v2.3 | COL3A1 |
Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: COL3A1. Tag Q3_22_expert_review was removed from gene: COL3A1. |
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| Bleeding and platelet disorders v2.3 | COL3A1 | Achchuthan Shanmugasundram commented on gene: COL3A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v2.2 | COL3A1 | Achchuthan Shanmugasundram Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.44 | COL3A1 | Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be considered for changing to Both mono and biallelic following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.44 | COL3A1 | Eleanor Williams Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.43 | COL3A1 |
Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL3A1. Tag Q3_22_expert_review tag was added to gene: COL3A1. |
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| Bleeding and platelet disorders v1.35 | COL3A1 |
Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: COL3A1. Tag Q3_21_expert_review was removed from gene: COL3A1. |
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| Bleeding and platelet disorders v1.35 | COL3A1 | Arina Puzriakova commented on gene: COL3A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.34 | COL3A1 |
Arina Puzriakova Source Expert Review Green was added to COL3A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v1.30 | COL3A1 | Arina Puzriakova commented on gene: COL3A1: Correspondence from Dr Neeti Ghali & Dr Fleur van Dijk, Consultant Clinical Geneticists, EDS National Diagnostic Service (15/07/2021) indicating that inclusion of COL3A1 as Green on this panel would be beneficial as they receive referrals from haematologists asking to consider this form of vascular EDS, associated with significant bruising and haematoma formation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.30 | COL3A1 |
Arina Puzriakova Tag Q2_21_expert_review was removed from gene: COL3A1. Tag Q3_21_NHS_review tag was added to gene: COL3A1. Tag Q3_21_expert_review tag was added to gene: COL3A1. |
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| Bleeding and platelet disorders v1.30 | COL3A1 | Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: COL3A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.8 | COL3A1 | Arina Puzriakova Phenotypes for gene: COL3A1 were changed from 130050 Ehlers-Danlos syndrome, vascular type to Ehlers-Danlos syndrome, vascular type, 130050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.7 | COL3A1 | Arina Puzriakova reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050841, 27259332, 31391389, 25940258, 20720362; Phenotypes: Ehlers-Danlos syndrome, vascular type, 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.4 | COL3A1 | Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.77 | COL3A1 | Louise Daugherty commented on gene: COL3A1: 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 |
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| 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 |
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| Bleeding and platelet disorders v0.70 | COL3A1 | Louise Daugherty Publications for gene: COL3A1 were set to 22019127; 25758994; 22143279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.69 | COL3A1 |
Louise Daugherty commented on gene: COL3A1: 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 COL3A1 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. Carl Fratter has since highlighted a report (PMID: 30690834) with a family with COL3A1 who presented with bruising (prepositus/family 3), noting it’s complicated by the fact that they are reporting it because of a VWF variant of uncertain significance (which is quite common in the general population, and so perhaps not likely to be very significant), but does appear to be an example of COL3A1 related EDS which was not obvious clinically and patient was referred for easy bruising before EDS was diagnosed. Awaiting consensus from the GMS Haematology Specialist Test Group regarding this |
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| Bleeding and platelet disorders v0.68 | COL3A1 | Mandy nesbitt reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 130050 Ehlers-Danlos syndrome, vascular type, 618343 Polymicrogyria with or without vascular-type EDS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.52 | COL3A1 | Louise Daugherty edited their review of gene: COL3A1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.52 | COL3A1 | Louise Daugherty edited their review of gene: COL3A1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.49 | COL3A1 | Louise Daugherty Classified gene: COL3A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.49 | COL3A1 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.49 | COL3A1 | Louise Daugherty Gene: col3a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | COL3A1 | Louise Daugherty reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | COL3A1 | Carl Fratter reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | COL3A1 | Louise Daugherty Source NHS GMS was added to COL3A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | COL3A1 |
Louise Daugherty Source Expert Review Green was added to COL3A1. Mode of inheritance for gene COL3A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 130050 Ehlers-Danlos syndrome, vascular type for gene: COL3A1 Publications for gene COL3A1 were changed from to 22019127; 25758994; 22143279 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v0.2 | COL3A1 |
Louise Daugherty gene: COL3A1 was added gene: COL3A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COL3A1 was set to |
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