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Bleeding and platelet disorders v1.0 Louise Daugherty promoted panel to version 1.0
Bleeding and platelet disorders v0.79 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Bleeding and platelet disorders v0.78 PTPN11 Louise Daugherty Classified gene: PTPN11 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.78 PTPN11 Louise Daugherty Added comment: Comment on list classification: After further discussion via email the GMS Haematology Specialist Test Group decided to rate PTPN11 Amber.
Bleeding and platelet disorders v0.78 PTPN11 Louise Daugherty Gene: ptpn11 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.77 PTPN11 Louise Daugherty edited their review of gene: PTPN11: Added comment: During the GMS Haematology Specialist Test Group webex call 8th March 2019 it was agreed to demote PRPN11 from Green to Red based on the syndromic phenotype (Noonan syndrome) would not present as bleeding/thrombocytopenia without other obvious symptoms.

Subsequent to this, a detailed review was recieved from Andrew Mumford (16th September 2019) : The clinical utility of the panel is to aid diagnosis of people presenting with bleeding or platelet disorders, where laboratory phenotype testing is insufficient for diagnosis. Noonan syndrome is about twice as common as haemophilia A, and can definitely present with coagulopathy with other features incompletely expressed of not recognised. These are all arguments to include PTPN11. Discovering Noonan syndrome is clinically important because of potential in interventions for other occult clinical features , like cardiac disease. However, we also have to be pragmatic here because using the same argument, there are dozens genes for other syndromic disorders which may present as a first contact in the bleeding disorders clinic (eg the EDS genes, CDG genes). We obviously shouldn’t be looking at all of these. The sensible option to me is to place carefully selected genes in this class ( i. associated with ‘common’ disorders and ii. in which other syndromic features may be less obvious to non-geneticists).

After this review, the gene was discussed again, and Carl Fratter and other members of the Haematology Specialist Test Group (Mandy Nesbit, Steve Keeny, Nicola Curry, Mike Mitchell agreed to change PTPN11 from Red to Amber rating, as this would then be in line with the Amber EDS genes on this panel.; Changed rating: AMBER
Bleeding and platelet disorders v0.77 COL5A2 Louise Daugherty commented on gene: COL5A2: 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 COL5A1 Louise Daugherty commented on gene: COL5A1: 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 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 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 COL1A1 Louise Daugherty commented on gene: COL1A1: 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 v0.77 ETV6 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.77 TNXB Louise Daugherty Publications for gene: TNXB were set to
Bleeding and platelet disorders v0.76 TNXB Louise Daugherty Classified gene: TNXB as Amber List (moderate evidence)
Bleeding and platelet disorders v0.76 TNXB Louise Daugherty Gene: tnxb has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.75 TNXB Louise Daugherty Classified gene: TNXB as No list
Bleeding and platelet disorders v0.75 TNXB Louise Daugherty Gene: tnxb has been removed from the panel.
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 v0.73 Louise Daugherty List of related panels changed from to R90
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty changed review comment from: GLH reviews since webex on 8th March 2019:
YNEGLH- Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED
WWMGLH- SMAD 4 IS 1 OF THE GENES FOR HHT AMBER
NWGLH- categorise as AMBER
LSGLH – no association with bleeding phenotype – RED; to: GLH reviews since webex on 8th March 2019:
YNEGLH: Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED
WWMGLH: SMAD 4 IS 1 OF THE GENES FOR HHT AMBER
NWGLH: categorise as AMBER
LSGLH: no association with bleeding phenotype – RED
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty Classified gene: SMAD4 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Red to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Bleeding and platelet disorders v0.72 SMAD4 Louise Daugherty Gene: smad4 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.71 SMAD4 Louise Daugherty commented on gene: SMAD4: GLH reviews since webex on 8th March 2019:
YNEGLH- Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED
WWMGLH- SMAD 4 IS 1 OF THE GENES FOR HHT AMBER
NWGLH- categorise as AMBER
LSGLH – no association with bleeding phenotype – RED
Bleeding and platelet disorders v0.71 RNU4ATAC Louise Daugherty Classified gene: RNU4ATAC as Amber List (moderate evidence)
Bleeding and platelet disorders v0.71 RNU4ATAC Louise Daugherty Added comment: Comment on list classification: Downgraded rating from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Bleeding and platelet disorders v0.71 RNU4ATAC Louise Daugherty Gene: rnu4atac has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.70 RNU4ATAC Louise Daugherty changed review comment from: GLH reviews since webex on 8th March 2019:
YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED
WWMGLH- IT IS ON THE ISTH GENE LIST GREEN WWMGLH
NWGLH – this target is associated with pronounced syndromes so I would not include on R90
LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.; to: GLH reviews since webex on 8th March 2019:
YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED
WWMGLH- IT IS ON THE ISTH GENE LIST GREEN
NWGLH – this target is associated with pronounced syndromes so I would not include on R90
LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.
Bleeding and platelet disorders v0.70 RNU4ATAC Louise Daugherty commented on gene: RNU4ATAC: GLH reviews since webex on 8th March 2019:
YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED
WWMGLH- IT IS ON THE ISTH GENE LIST GREEN WWMGLH
NWGLH – this target is associated with pronounced syndromes so I would not include on R90
LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.
Bleeding and platelet disorders v0.70 COL5A2 Louise Daugherty commented on gene: COL5A2: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Bleeding and platelet disorders v0.70 COL5A1 Louise Daugherty commented on gene: COL5A1: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Bleeding and platelet disorders v0.70 COL1A1 Louise Daugherty commented on gene: COL1A1: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
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
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 ABCG8 Mandy nesbitt changed review comment from: Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.; to: Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
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 v0.68 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 v0.67 UNC13D Louise Daugherty Classified gene: UNC13D as Amber List (moderate evidence)
Bleeding and platelet disorders v0.67 UNC13D Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).
Bleeding and platelet disorders v0.67 UNC13D Louise Daugherty Gene: unc13d has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.66 TRPM7 Louise Daugherty Phenotypes for gene: TRPM7 were changed from macrothrombocytopenia; (NO OMIM NUMBER OR DISEASE NAME to macrothrombocytopenia
Bleeding and platelet disorders v0.65 TRPM7 Louise Daugherty Classified gene: TRPM7 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.65 TRPM7 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).
Bleeding and platelet disorders v0.65 TRPM7 Louise Daugherty Gene: trpm7 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.64 STX11 Louise Daugherty Classified gene: STX11 as Red List (low evidence)
Bleeding and platelet disorders v0.64 STX11 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc). Also considered Steve Keeney Red rating.
Bleeding and platelet disorders v0.64 STX11 Louise Daugherty Gene: stx11 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.63 SMAD4 Louise Daugherty Phenotypes for gene: SMAD4 were changed from (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome to hereditary hemorrhagic telangiectasia syndrome
Bleeding and platelet disorders v0.62 SMAD4 Louise Daugherty Classified gene: SMAD4 as Red List (low evidence)
Bleeding and platelet disorders v0.62 SMAD4 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Red (webex 8.03.19 WWMGLH comments v1.doc).
Bleeding and platelet disorders v0.62 SMAD4 Louise Daugherty Gene: smad4 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.61 RGS2 Louise Daugherty Classified gene: RGS2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.61 RGS2 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).
Bleeding and platelet disorders v0.61 RGS2 Louise Daugherty Gene: rgs2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.60 RGS2 Louise Daugherty Classified gene: RGS2 as Green List (high evidence)
Bleeding and platelet disorders v0.60 RGS2 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).
Bleeding and platelet disorders v0.60 RGS2 Louise Daugherty Gene: rgs2 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.59 P2RX1 Louise Daugherty Classified gene: P2RX1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.59 P2RX1 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc)
Bleeding and platelet disorders v0.59 P2RX1 Louise Daugherty Gene: p2rx1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.58 MKL1 Louise Daugherty Classified gene: MKL1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.58 MKL1 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).
Bleeding and platelet disorders v0.58 MKL1 Louise Daugherty Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.57 GALE Louise Daugherty Classified gene: GALE as Amber List (moderate evidence)
Bleeding and platelet disorders v0.57 GALE Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc) comment
Bleeding and platelet disorders v0.57 GALE Louise Daugherty Gene: gale has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.56 UNC13D Louise Daugherty commented on gene: UNC13D: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 TRPM7 Louise Daugherty commented on gene: TRPM7: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 STX11 Louise Daugherty commented on gene: STX11: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 SMAD4 Louise Daugherty commented on gene: SMAD4: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red
Bleeding and platelet disorders v0.56 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green
Bleeding and platelet disorders v0.56 RNU4ATAC Louise Daugherty commented on gene: RNU4ATAC: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green
Bleeding and platelet disorders v0.56 RGS2 Louise Daugherty commented on gene: RGS2: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 P2RX1 Louise Daugherty commented on gene: P2RX1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 MKL1 Louise Daugherty commented on gene: MKL1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 LYST Louise Daugherty commented on gene: LYST: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green
Bleeding and platelet disorders v0.56 GALE Louise Daugherty commented on gene: GALE: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Bleeding and platelet disorders v0.56 F2 Louise Daugherty commented on gene: F2: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green
Bleeding and platelet disorders v0.55 SERPINE1 Louise Daugherty Source Wessex and West Midlands GLH was added to SERPINE1.
Bleeding and platelet disorders v0.55 F2 Louise Daugherty Source Wessex and West Midlands GLH was added to F2.
Bleeding and platelet disorders v0.54 GALE Louise Daugherty Phenotypes for gene: GALE were changed from (NO OMIM OR DISEASE); Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) to Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)
Bleeding and platelet disorders v0.53 UNC13D PATRICIA BIGNELL reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 TRPM7 PATRICIA BIGNELL reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 STX11 PATRICIA BIGNELL reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 SMAD4 PATRICIA BIGNELL reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 SERPINE1 PATRICIA BIGNELL reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 RNU4ATAC PATRICIA BIGNELL reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 RGS2 PATRICIA BIGNELL reviewed gene: RGS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 P2RX1 PATRICIA BIGNELL reviewed gene: P2RX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 MKL1 PATRICIA BIGNELL reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 LYST PATRICIA BIGNELL reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 GALE PATRICIA BIGNELL reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.53 F2 PATRICIA BIGNELL reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.52 COL3A1 Louise Daugherty edited their review of gene: COL3A1: Changed rating: AMBER
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty edited their review of gene: PTPN11: Changed rating: RED
Bleeding and platelet disorders v0.52 COL3A1 Louise Daugherty edited their review of gene: COL3A1: Changed rating: RED
Bleeding and platelet disorders v0.52 THBD Louise Daugherty edited their review of gene: THBD: Changed rating: GREEN
Bleeding and platelet disorders v0.52 SRC Louise Daugherty edited their review of gene: SRC: Changed rating: GREEN
Bleeding and platelet disorders v0.52 RBM8A Louise Daugherty edited their review of gene: RBM8A: Changed rating: GREEN
Bleeding and platelet disorders v0.52 PLA2G4A Louise Daugherty edited their review of gene: PLA2G4A: Changed rating: GREEN
Bleeding and platelet disorders v0.52 NBEA Louise Daugherty edited their review of gene: NBEA: Changed rating: GREEN
Bleeding and platelet disorders v0.52 ITGA2 Louise Daugherty edited their review of gene: ITGA2: Changed rating: RED
Bleeding and platelet disorders v0.52 HOXA11 Louise Daugherty edited their review of gene: HOXA11: Changed rating: GREEN
Bleeding and platelet disorders v0.52 GNE Louise Daugherty edited their review of gene: GNE: Changed rating: GREEN
Bleeding and platelet disorders v0.52 ETV6 Louise Daugherty edited their review of gene: ETV6: Changed rating: GREEN
Bleeding and platelet disorders v0.52 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Changed rating: GREEN
Bleeding and platelet disorders v0.52 CDC42 Louise Daugherty edited their review of gene: CDC42: Changed rating: GREEN
Bleeding and platelet disorders v0.52 ACTB Louise Daugherty edited their review of gene: ACTB: Changed rating: GREEN
Bleeding and platelet disorders v0.52 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Changed rating: GREEN
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Classified gene: PTPN11 as Red List (low evidence)
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red. This gene is associated to Noonan syndrome
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Gene: ptpn11 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Classified gene: COL5A2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.51 COL5A2 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 v0.51 COL5A2 Louise Daugherty Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Classified gene: COL5A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.50 COL5A1 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 v0.50 COL5A1 Louise Daugherty Gene: col5a1 has been classified as Amber List (Moderate Evidence).
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 v0.48 COL1A1 Louise Daugherty Classified gene: COL1A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.48 COL1A1 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 v0.48 COL1A1 Louise Daugherty Gene: col1a1 has been classified as Amber List (Moderate Evidence).
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 v0.46 THBD Louise Daugherty commented on gene: THBD: Use with caution when reporting variants outside the transmembrane domain
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Classified gene: THBD as Green List (high evidence)
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Gene: thbd has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Classified gene: SRC as Green List (high evidence)
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Gene: src has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Classified gene: SLC45A2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Gene: slc45a2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Classified gene: RBM8A as Green List (high evidence)
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Classified gene: PTPRJ as Amber List (moderate evidence)
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Classified gene: PTGS1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Classified gene: PLA2G4A as Green List (high evidence)
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Classified gene: NBEA as Green List (high evidence)
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Gene: nbea has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty commented on gene: KDSR: Note: this is associated to a clinically recognised phenotype characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Classified gene: KDSR as Green List (high evidence)
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Classified gene: ITGA2 as Red List (low evidence)
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red.
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Gene: itga2 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Classified gene: HOXA11 as Green List (high evidence)
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Classified gene: GNE as Green List (high evidence)
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Gene: gne has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Classified gene: FLNA as Amber List (moderate evidence)
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Gene: flna has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.33 ETV6 Louise Daugherty edited their review of gene: ETV6: Changed rating: AMBER
Bleeding and platelet disorders v0.33 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Changed rating: AMBER
Bleeding and platelet disorders v0.33 CDC42 Louise Daugherty edited their review of gene: CDC42: Changed rating: AMBER
Bleeding and platelet disorders v0.33 ACTB Louise Daugherty Mode of inheritance for gene: ACTB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty edited their review of gene: ACTB: Changed rating: AMBER
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Changed rating: AMBER
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Classified gene: ABCG8 as Green List (high evidence)
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Classified gene: F2R as Amber List (moderate evidence)
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Gene: f2r has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty edited their review of gene: EPHB2: Changed rating: AMBER
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty commented on gene: ETV6: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty edited their review of gene: ETV6: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty edited their review of gene: EPHB2: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 CDC42 Louise Daugherty edited their review of gene: CDC42: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 ACTB Louise Daugherty edited their review of gene: ACTB: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 STX11 Steve Keeney edited their review of gene: STX11: Added comment: Insufficient evidence to include - primary association of variants in this gene relate to familial hemophagocytic lymphohistiocytosis. Reports of increased bleeding tendency are secondary to this.; Changed rating: RED
Bleeding and platelet disorders v0.28 F2 Steve Keeney commented on gene: F2: Multiple reports on HGMD in association with prothrombin deficiency.
Bleeding and platelet disorders v0.28 RNU4ATAC Steve Keeney reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 210710, # 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.28 LYST Steve Keeney commented on gene: LYST: Classed as tier 1 by ISTH based on "gene-disease association had been reported in at least 3 independent pedigrees, or <3 pedigrees and supported by specific functional data and/or a mouse model, and following expert discussions during yearly SSC meeting".
Bleeding and platelet disorders v0.28 ABCG5 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ABCG8 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ACTB Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ACTN1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ACVRL1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ADAMTS13 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ANKRD26 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ANO6 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 AP3B1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 AP3D1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ARPC1B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 BLOC1S3 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 BLOC1S6 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 CDC42 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 CYCS Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 DIAPH1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 DTNBP1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ENG Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F10 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F11 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F12 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F13A1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F13B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F2R Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F5 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F7 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F8 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F9 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FERMT3 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FGA Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FGB Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FGG Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FLI1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FLNA Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 FYB1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GATA1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GBA Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GFI1B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GGCX Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GNE Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GP1BA Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GP1BB Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GP6 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 GP9 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 HOXA11 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 HPS1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 HPS3 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 HPS4 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 HPS5 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 HPS6 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ITGA2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ITGA2B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 ITGB3 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 KDSR Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 KLKB1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 KNG1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 LMAN1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MCFD2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 MCFD2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 MECOM Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 MPIG6B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 MPL Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 MYH9 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 NBEA Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 P2RY12 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 PLA2G4A Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 PLAU Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 PRKACG Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 PTGS1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 PTPRJ Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 RASGRP2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 RBM8A Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 RUNX1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 SERPINF2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 SLC45A2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 SLFN14 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 SRC Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 STIM1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 STXBP2 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 TBXA2R Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 TBXAS1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 THBD Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 THPO Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 TPM4 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 TUBB1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 VIPAS39 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 VKORC1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 VPS33B Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 VWF Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 WAS Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.28 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted
Bleeding and platelet disorders v0.28 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.28 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.28 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.28 STX11 Louise Daugherty commented on gene: STX11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STX11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SLC45A2 Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Bleeding and platelet disorders v0.28 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PTPRJ Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PTPN11 Louise Daugherty commented on gene: PTPN11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPN11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 163950 Noonan syndrome 1; PMID(s): none submitted. Comment: ? Appropriate for this panel since Noonan's?
Bleeding and platelet disorders v0.28 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.28 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.28 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.28 LYST Louise Daugherty commented on gene: LYST: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LYST; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 214500 Chediak-Higashi syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 KNG1 Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.28 KLKB1 Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 KDSR Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted
Bleeding and platelet disorders v0.28 ITGB3 Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ITGA2B Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ITGA2 Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS6 Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS5 Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS4 Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS3 Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HPS1 Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP9 Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP6 Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP1BB Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GP1BA Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GNE Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 GGCX Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GFI1B Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.28 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted. Comment: Think appropriate as Gauchers indocation
Bleeding and platelet disorders v0.28 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FLNA Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 FLI1 Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.28 FERMT3 Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F9 Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F8 Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F7 Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F2R Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Type 1 VWD not strong enough evidence?; PMID(s): none submitted. Comment: not strong enough evidence?
Bleeding and platelet disorders v0.28 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F13B Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F13A1 Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F12 Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F11 Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 F10 Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty commented on gene: EPHB2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted. Comment: One recent report
Bleeding and platelet disorders v0.28 ENG Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.28 DTNBP1 Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.28 DIAPH1 Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 CYCS Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.28 CDC42 Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.28 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ARPC1B Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.28 AP3D1 Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.28 AP3B1 Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ANO6 Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ACTN1 Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ACTB Louise Daugherty commented on gene: ACTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.28 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.28 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.27 WAS Steve Keeney reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked, 313900 Thrombocytopenia, X-linked (intermittent); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.27 VWF Steve Keeney reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 VPS33B Steve Keeney reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 VKORC1 Steve Keeney reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2, 122700 Warfarin resistance; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 VIPAS39 Steve Keeney reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 TUBB1 Steve Keeney reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 TPM4 Steve Keeney reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 THPO Steve Keeney reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 THBD Steve Keeney reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.27 TBXAS1 Steve Keeney reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 TBXA2R Steve Keeney reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 STXBP2 Steve Keeney reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 STX11 Steve Keeney reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 STIM1 Steve Keeney reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 SRC Steve Keeney reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 SLFN14 Steve Keeney reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 SLC45A2 Steve Keeney reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 SERPINF2 Steve Keeney reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 SERPINE1 Steve Keeney reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 RUNX1 Steve Keeney reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 RBM8A Steve Keeney reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 RASGRP2 Steve Keeney reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PTPRJ Steve Keeney reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PTPN11 Steve Keeney reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 163950 Noonan syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 PTGS1 Steve Keeney reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12, BDPLT12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PRKACG Steve Keeney reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176 BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 PLAU Steve Keeney reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 PLA2G4A Steve Keeney reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 P2RY12 Steve Keeney reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 NBEAL2 Steve Keeney reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 NBEA Steve Keeney reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 MYH9 Steve Keeney reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 MPL Steve Keeney reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 MPIG6B Steve Keeney reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 MECOM Steve Keeney reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 MCFD2 Steve Keeney reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 LYST Steve Keeney reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 214500 Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 LMAN1 Steve Keeney reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 KNG1 Steve Keeney reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 KLKB1 Steve Keeney reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 KDSR Steve Keeney reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ITGB3 Steve Keeney reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ITGA2B Steve Keeney reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ITGA2 Steve Keeney reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS6 Steve Keeney reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS5 Steve Keeney reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS4 Steve Keeney reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS3 Steve Keeney reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HPS1 Steve Keeney reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 HOXA11 Steve Keeney reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 GP9 Steve Keeney reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GP6 Steve Keeney reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GP1BB Steve Keeney reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GP1BA Steve Keeney reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GNE Steve Keeney reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GGCX Steve Keeney reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GFI1B Steve Keeney reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GBA Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 GATA1 Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.27 FYB1 Steve Keeney reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FLNA Steve Keeney reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.27 FLI1 Steve Keeney reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FGG Steve Keeney reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FGB Steve Keeney reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FGA Steve Keeney reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 FERMT3 Steve Keeney reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 F9 Steve Keeney reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F8 Steve Keeney reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F7 Steve Keeney reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F5 Steve Keeney reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F2R Steve Keeney reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F2 Steve Keeney reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F13B Steve Keeney reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F13A1 Steve Keeney reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F12 Steve Keeney reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 F11 Steve Keeney reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 F10 Steve Keeney reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.27 ETV6 Steve Keeney reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 EPHB2 Steve Keeney reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ENG Steve Keeney reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 DTNBP1 Steve Keeney reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 DIAPH1 Steve Keeney reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 CYCS Steve Keeney reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 CDC42 Steve Keeney reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 BLOC1S6 Steve Keeney reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 BLOC1S3 Steve Keeney reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ARPC1B Steve Keeney reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 AP3D1 Steve Keeney reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 AP3B1 Steve Keeney reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ANO6 Steve Keeney reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ANKRD26 Steve Keeney reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 ADAMTS13 Steve Keeney reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ACVRL1 Steve Keeney reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.27 ACTN1 Steve Keeney reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.27 ACTB Steve Keeney reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ABCG8 Steve Keeney reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.27 ABCG5 Steve Keeney reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.26 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS
Bleeding and platelet disorders v0.26 VWF Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
Bleeding and platelet disorders v0.26 VPS33B Louise Daugherty Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Bleeding and platelet disorders v0.26 VKORC1 Louise Daugherty Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
Bleeding and platelet disorders v0.26 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.26 TUBB1 Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Bleeding and platelet disorders v0.26 THPO Louise Daugherty Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Bleeding and platelet disorders v0.26 THBD Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Bleeding and platelet disorders v0.26 TBXAS1 Louise Daugherty Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Bleeding and platelet disorders v0.26 TBXA2R Louise Daugherty Added phenotypes BDPLT13; 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Bleeding and platelet disorders v0.26 STXBP2 Louise Daugherty Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Bleeding and platelet disorders v0.26 STIM1 Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Bleeding and platelet disorders v0.26 SRC Louise Daugherty Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Bleeding and platelet disorders v0.26 SLFN14 Louise Daugherty Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Bleeding and platelet disorders v0.26 SLC45A2 Louise Daugherty Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2
Bleeding and platelet disorders v0.26 SERPINF2 Louise Daugherty Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Bleeding and platelet disorders v0.26 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Bleeding and platelet disorders v0.26 RUNX1 Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Bleeding and platelet disorders v0.26 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Bleeding and platelet disorders v0.26 RASGRP2 Louise Daugherty Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Bleeding and platelet disorders v0.26 PTPN11 Louise Daugherty Added phenotypes 163950 Noonan syndrome 1 for gene: PTPN11
Bleeding and platelet disorders v0.26 PTGS1 Louise Daugherty Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Bleeding and platelet disorders v0.26 PRKACG Louise Daugherty Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Bleeding and platelet disorders v0.26 PLAU Louise Daugherty Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Bleeding and platelet disorders v0.26 PLA2G4A Louise Daugherty Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A
Bleeding and platelet disorders v0.26 P2RY12 Louise Daugherty Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
Bleeding and platelet disorders v0.26 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.26 MYH9 Louise Daugherty Added phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Bleeding and platelet disorders v0.26 MPL Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Bleeding and platelet disorders v0.26 MPIG6B Louise Daugherty Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Bleeding and platelet disorders v0.26 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Bleeding and platelet disorders v0.26 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Bleeding and platelet disorders v0.26 LYST Louise Daugherty Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST
Bleeding and platelet disorders v0.26 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Bleeding and platelet disorders v0.26 KNG1 Louise Daugherty Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1
Bleeding and platelet disorders v0.26 KLKB1 Louise Daugherty Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Bleeding and platelet disorders v0.26 KDSR Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Bleeding and platelet disorders v0.26 ITGB3 Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Bleeding and platelet disorders v0.26 ITGA2B Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Bleeding and platelet disorders v0.26 ITGA2 Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Bleeding and platelet disorders v0.26 HPS6 Louise Daugherty Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Bleeding and platelet disorders v0.26 HPS5 Louise Daugherty Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Bleeding and platelet disorders v0.26 HPS4 Louise Daugherty Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Bleeding and platelet disorders v0.26 HPS3 Louise Daugherty Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Bleeding and platelet disorders v0.26 HPS1 Louise Daugherty Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Bleeding and platelet disorders v0.26 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Bleeding and platelet disorders v0.26 GP9 Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP9
Bleeding and platelet disorders v0.26 GP6 Louise Daugherty Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Bleeding and platelet disorders v0.26 GP1BB Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Bleeding and platelet disorders v0.26 GP1BA Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA
Bleeding and platelet disorders v0.26 GNE Louise Daugherty Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE
Bleeding and platelet disorders v0.26 GGCX Louise Daugherty Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Bleeding and platelet disorders v0.26 GFI1B Louise Daugherty Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Bleeding and platelet disorders v0.26 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Bleeding and platelet disorders v0.26 GATA1 Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Bleeding and platelet disorders v0.26 FYB1 Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Bleeding and platelet disorders v0.26 FLNA Louise Daugherty Added phenotypes Macrothrombocytopenia for gene: FLNA
Bleeding and platelet disorders v0.26 FLI1 Louise Daugherty Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1
Bleeding and platelet disorders v0.26 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Bleeding and platelet disorders v0.26 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Bleeding and platelet disorders v0.26 FGA Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Bleeding and platelet disorders v0.26 FERMT3 Louise Daugherty Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Bleeding and platelet disorders v0.26 F9 Louise Daugherty Added phenotypes 306900 Haemophilia B for gene: F9
Bleeding and platelet disorders v0.26 F8 Louise Daugherty Added phenotypes 306700 Haemophilia A for gene: F8
Bleeding and platelet disorders v0.26 F7 Louise Daugherty Added phenotypes 227500 Factor VII deficiency for gene: F7
Bleeding and platelet disorders v0.26 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Bleeding and platelet disorders v0.26 F2R Louise Daugherty Added phenotypes Type 1 VWD for gene: F2R
Bleeding and platelet disorders v0.26 F2 Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
Bleeding and platelet disorders v0.26 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.26 F13A1 Louise Daugherty Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Bleeding and platelet disorders v0.26 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.26 F11 Louise Daugherty Added phenotypes 612416 Factor XI deficiency for gene: F11
Bleeding and platelet disorders v0.26 F10 Louise Daugherty Added phenotypes 227600 Factor X deficiency for gene: F10
Bleeding and platelet disorders v0.26 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Bleeding and platelet disorders v0.26 ENG Louise Daugherty Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Bleeding and platelet disorders v0.26 DTNBP1 Louise Daugherty Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Bleeding and platelet disorders v0.26 DIAPH1 Louise Daugherty Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1
Bleeding and platelet disorders v0.26 CYCS Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Bleeding and platelet disorders v0.26 CDC42 Louise Daugherty Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Bleeding and platelet disorders v0.26 BLOC1S6 Louise Daugherty Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Bleeding and platelet disorders v0.26 BLOC1S3 Louise Daugherty Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Bleeding and platelet disorders v0.26 ARPC1B Louise Daugherty Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Bleeding and platelet disorders v0.26 AP3D1 Louise Daugherty Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Bleeding and platelet disorders v0.26 AP3B1 Louise Daugherty Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Bleeding and platelet disorders v0.26 ANO6 Louise Daugherty Added phenotypes 262890 Scott syndrome for gene: ANO6
Bleeding and platelet disorders v0.26 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Bleeding and platelet disorders v0.26 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Bleeding and platelet disorders v0.26 ACVRL1 Louise Daugherty Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Bleeding and platelet disorders v0.26 ACTN1 Louise Daugherty Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Bleeding and platelet disorders v0.26 ACTB Louise Daugherty Added phenotypes AD thrombocytopenia for gene: ACTB
Bleeding and platelet disorders v0.26 ABCG8 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Bleeding and platelet disorders v0.26 ABCG5 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Bleeding and platelet disorders v0.24 WAS Louise Daugherty Source North West GLH was added to WAS.
Bleeding and platelet disorders v0.24 VWF Louise Daugherty Source North West GLH was added to VWF.
Bleeding and platelet disorders v0.24 VPS33B Louise Daugherty Source North West GLH was added to VPS33B.
Bleeding and platelet disorders v0.24 VKORC1 Louise Daugherty Source North West GLH was added to VKORC1.
Bleeding and platelet disorders v0.24 VIPAS39 Louise Daugherty Source North West GLH was added to VIPAS39.
Bleeding and platelet disorders v0.24 TUBB1 Louise Daugherty Source North West GLH was added to TUBB1.
Bleeding and platelet disorders v0.24 TPM4 Louise Daugherty Source North West GLH was added to TPM4.
Bleeding and platelet disorders v0.24 THPO Louise Daugherty Source North West GLH was added to THPO.
Bleeding and platelet disorders v0.24 THBD Louise Daugherty Source North West GLH was added to THBD.
Bleeding and platelet disorders v0.24 TBXAS1 Louise Daugherty Source North West GLH was added to TBXAS1.
Bleeding and platelet disorders v0.24 TBXA2R Louise Daugherty Source North West GLH was added to TBXA2R.
Bleeding and platelet disorders v0.24 STXBP2 Louise Daugherty Source North West GLH was added to STXBP2.
Bleeding and platelet disorders v0.24 STX11 Louise Daugherty Source North West GLH was added to STX11.
Bleeding and platelet disorders v0.24 STIM1 Louise Daugherty Source North West GLH was added to STIM1.
Bleeding and platelet disorders v0.24 SRC Louise Daugherty Source North West GLH was added to SRC.
Bleeding and platelet disorders v0.24 SLFN14 Louise Daugherty Source North West GLH was added to SLFN14.
Bleeding and platelet disorders v0.24 SLC45A2 Louise Daugherty Source North West GLH was added to SLC45A2.
Bleeding and platelet disorders v0.24 SERPINF2 Louise Daugherty Source North West GLH was added to SERPINF2.
Bleeding and platelet disorders v0.24 SERPINE1 Louise Daugherty Source North West GLH was added to SERPINE1.
Bleeding and platelet disorders v0.24 RUNX1 Louise Daugherty Source North West GLH was added to RUNX1.
Bleeding and platelet disorders v0.24 RBM8A Louise Daugherty Source North West GLH was added to RBM8A.
Bleeding and platelet disorders v0.24 RASGRP2 Louise Daugherty Source North West GLH was added to RASGRP2.
Bleeding and platelet disorders v0.24 PTPRJ Louise Daugherty Source North West GLH was added to PTPRJ.
Bleeding and platelet disorders v0.24 PTPN11 Louise Daugherty Source North West GLH was added to PTPN11.
Bleeding and platelet disorders v0.24 PTGS1 Louise Daugherty Source North West GLH was added to PTGS1.
Bleeding and platelet disorders v0.24 PRKACG Louise Daugherty Source North West GLH was added to PRKACG.
Bleeding and platelet disorders v0.24 PLAU Louise Daugherty Source North West GLH was added to PLAU.
Bleeding and platelet disorders v0.24 PLA2G4A Louise Daugherty Source North West GLH was added to PLA2G4A.
Bleeding and platelet disorders v0.24 P2RY12 Louise Daugherty Source North West GLH was added to P2RY12.
Bleeding and platelet disorders v0.24 NBEAL2 Louise Daugherty Source North West GLH was added to NBEAL2.
Bleeding and platelet disorders v0.24 NBEA Louise Daugherty Source North West GLH was added to NBEA.
Bleeding and platelet disorders v0.24 MYH9 Louise Daugherty Source North West GLH was added to MYH9.
Bleeding and platelet disorders v0.24 MPL Louise Daugherty Source North West GLH was added to MPL.
Bleeding and platelet disorders v0.24 MPIG6B Louise Daugherty Source North West GLH was added to MPIG6B.
Bleeding and platelet disorders v0.24 MECOM Louise Daugherty Source North West GLH was added to MECOM.
Bleeding and platelet disorders v0.24 MCFD2 Louise Daugherty Source North West GLH was added to MCFD2.
Bleeding and platelet disorders v0.24 LYST Louise Daugherty Source North West GLH was added to LYST.
Bleeding and platelet disorders v0.24 LMAN1 Louise Daugherty Source North West GLH was added to LMAN1.
Bleeding and platelet disorders v0.24 KNG1 Louise Daugherty Source North West GLH was added to KNG1.
Bleeding and platelet disorders v0.24 KLKB1 Louise Daugherty Source North West GLH was added to KLKB1.
Bleeding and platelet disorders v0.24 KDSR Louise Daugherty Source North West GLH was added to KDSR.
Bleeding and platelet disorders v0.24 ITGB3 Louise Daugherty Source North West GLH was added to ITGB3.
Bleeding and platelet disorders v0.24 ITGA2B Louise Daugherty Source North West GLH was added to ITGA2B.
Bleeding and platelet disorders v0.24 ITGA2 Louise Daugherty Source North West GLH was added to ITGA2.
Bleeding and platelet disorders v0.24 HPS6 Louise Daugherty Source North West GLH was added to HPS6.
Bleeding and platelet disorders v0.24 HPS5 Louise Daugherty Source North West GLH was added to HPS5.
Bleeding and platelet disorders v0.24 HPS4 Louise Daugherty Source North West GLH was added to HPS4.
Bleeding and platelet disorders v0.24 HPS3 Louise Daugherty Source North West GLH was added to HPS3.
Bleeding and platelet disorders v0.24 HPS1 Louise Daugherty Source North West GLH was added to HPS1.
Bleeding and platelet disorders v0.24 HOXA11 Louise Daugherty Source North West GLH was added to HOXA11.
Bleeding and platelet disorders v0.24 GP9 Louise Daugherty Source North West GLH was added to GP9.
Bleeding and platelet disorders v0.24 GP6 Louise Daugherty Source North West GLH was added to GP6.
Bleeding and platelet disorders v0.24 GP1BB Louise Daugherty Source North West GLH was added to GP1BB.
Bleeding and platelet disorders v0.24 GP1BA Louise Daugherty Source North West GLH was added to GP1BA.
Bleeding and platelet disorders v0.24 GNE Louise Daugherty Source North West GLH was added to GNE.
Bleeding and platelet disorders v0.24 GGCX Louise Daugherty Source North West GLH was added to GGCX.
Bleeding and platelet disorders v0.24 GFI1B Louise Daugherty Source North West GLH was added to GFI1B.
Bleeding and platelet disorders v0.24 GBA Louise Daugherty Source North West GLH was added to GBA.
Bleeding and platelet disorders v0.24 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Bleeding and platelet disorders v0.24 FYB1 Louise Daugherty Source North West GLH was added to FYB1.
Bleeding and platelet disorders v0.24 FLNA Louise Daugherty Source North West GLH was added to FLNA.
Bleeding and platelet disorders v0.24 FLI1 Louise Daugherty Source North West GLH was added to FLI1.
Bleeding and platelet disorders v0.24 FGG Louise Daugherty Source North West GLH was added to FGG.
Bleeding and platelet disorders v0.24 FGB Louise Daugherty Source North West GLH was added to FGB.
Bleeding and platelet disorders v0.24 FGA Louise Daugherty Source North West GLH was added to FGA.
Bleeding and platelet disorders v0.24 FERMT3 Louise Daugherty Source North West GLH was added to FERMT3.
Bleeding and platelet disorders v0.24 F9 Louise Daugherty Source North West GLH was added to F9.
Bleeding and platelet disorders v0.24 F8 Louise Daugherty Source North West GLH was added to F8.
Bleeding and platelet disorders v0.24 F7 Louise Daugherty Source North West GLH was added to F7.
Bleeding and platelet disorders v0.24 F5 Louise Daugherty Source North West GLH was added to F5.
Bleeding and platelet disorders v0.24 F2R Louise Daugherty Source North West GLH was added to F2R.
Bleeding and platelet disorders v0.24 F2 Louise Daugherty Source North West GLH was added to F2.
Bleeding and platelet disorders v0.24 F13B Louise Daugherty Source North West GLH was added to F13B.
Bleeding and platelet disorders v0.24 F13A1 Louise Daugherty Source North West GLH was added to F13A1.
Bleeding and platelet disorders v0.24 F12 Louise Daugherty Source North West GLH was added to F12.
Bleeding and platelet disorders v0.24 F11 Louise Daugherty Source North West GLH was added to F11.
Bleeding and platelet disorders v0.24 F10 Louise Daugherty Source North West GLH was added to F10.
Bleeding and platelet disorders v0.24 ETV6 Louise Daugherty Source North West GLH was added to ETV6.
Bleeding and platelet disorders v0.24 EPHB2 Louise Daugherty Source North West GLH was added to EPHB2.
Bleeding and platelet disorders v0.24 ENG Louise Daugherty Source North West GLH was added to ENG.
Bleeding and platelet disorders v0.24 DTNBP1 Louise Daugherty Source North West GLH was added to DTNBP1.
Bleeding and platelet disorders v0.24 DIAPH1 Louise Daugherty Source North West GLH was added to DIAPH1.
Bleeding and platelet disorders v0.24 CYCS Louise Daugherty Source North West GLH was added to CYCS.
Bleeding and platelet disorders v0.24 CDC42 Louise Daugherty Source North West GLH was added to CDC42.
Bleeding and platelet disorders v0.24 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Bleeding and platelet disorders v0.24 BLOC1S3 Louise Daugherty Source North West GLH was added to BLOC1S3.
Bleeding and platelet disorders v0.24 ARPC1B Louise Daugherty Source North West GLH was added to ARPC1B.
Bleeding and platelet disorders v0.24 AP3D1 Louise Daugherty Source North West GLH was added to AP3D1.
Bleeding and platelet disorders v0.24 AP3B1 Louise Daugherty Source North West GLH was added to AP3B1.
Bleeding and platelet disorders v0.24 ANO6 Louise Daugherty Source North West GLH was added to ANO6.
Bleeding and platelet disorders v0.24 ANKRD26 Louise Daugherty Source North West GLH was added to ANKRD26.
Bleeding and platelet disorders v0.24 ADAMTS13 Louise Daugherty Source North West GLH was added to ADAMTS13.
Bleeding and platelet disorders v0.24 ACVRL1 Louise Daugherty Source North West GLH was added to ACVRL1.
Bleeding and platelet disorders v0.24 ACTN1 Louise Daugherty Source North West GLH was added to ACTN1.
Bleeding and platelet disorders v0.24 ACTB Louise Daugherty Source North West GLH was added to ACTB.
Bleeding and platelet disorders v0.24 ABCG8 Louise Daugherty Source North West GLH was added to ABCG8.
Bleeding and platelet disorders v0.24 ABCG5 Louise Daugherty Source North West GLH was added to ABCG5.
Bleeding and platelet disorders v0.23 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome; 300299 Neutropenia, severe congenital, X-linked;313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.23 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1;613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; PMID(s): none submitted
Bleeding and platelet disorders v0.23 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2;122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.23 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.23 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.23 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: N/A AD bleeding disorder; PMID(s): 25564403
Bleeding and platelet disorders v0.23 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.23 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.23 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Bleeding and platelet disorders v0.23 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.23 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Phospholipase A2, group IV A, deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.23 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.23 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090 Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.23 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 KNG1 Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.23 KLKB1 Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 KDSR Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ITGB3 Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ITGA2B Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ITGA2 Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS6 Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS5 Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS4 Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS3 Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HPS1 Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP9 Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME;; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP6 Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP1BB Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GP1BA Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME; 177820 von Willebrand disease, platelet-type; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GNE Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Myopathy associated with thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GGCX Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GFI1B Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I;230900 Gaucher disease, type II; 231000 Gaucher disease, type III; 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Bleeding and platelet disorders v0.23 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FLNA Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: N/A Macrothrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FLI1 Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital; 105200 Amyloidosis, familial visceral;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.23 FERMT3 Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F9 Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F8 Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F7 Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F2R Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: N/A Type 1 VWD; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F13B Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F13A1 Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F12 Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F11 Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 F10 Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ENG Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.23 DTNBP1 Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.23 DIAPH1 Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.23 CYCS Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.23 CDC42 Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.23 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ARPC1B Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.23 AP3D1 Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.23 AP3B1 Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ANO6 Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ACTN1 Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.23 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.22 WAS Mandy nesbitt reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.22 VWF Mandy nesbitt reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 VPS33B Mandy nesbitt reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 VKORC1 Mandy nesbitt reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 VIPAS39 Mandy nesbitt reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 TUBB1 Mandy nesbitt reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 TPM4 Mandy nesbitt reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 THPO Mandy nesbitt reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 THBD Mandy nesbitt reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.22 TBXAS1 Mandy nesbitt reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 TBXA2R Mandy nesbitt reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 STXBP2 Mandy nesbitt reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 STIM1 Mandy nesbitt reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 SRC Mandy nesbitt reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 SLFN14 Mandy nesbitt reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 SERPINF2 Mandy nesbitt reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 SERPINE1 Mandy nesbitt reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 RUNX1 Mandy nesbitt reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.22 RBM8A Mandy nesbitt reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 RASGRP2 Mandy nesbitt reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 PTGS1 Mandy nesbitt reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 PRKACG Mandy nesbitt reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 PLAU Mandy nesbitt reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 PLA2G4A Mandy nesbitt reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 P2RY12 Mandy nesbitt reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 NBEAL2 Mandy nesbitt reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 MYH9 Mandy nesbitt reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.22 MPL Mandy nesbitt reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 MPIG6B Mandy nesbitt reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 MECOM Mandy nesbitt reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 MCFD2 Mandy nesbitt reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 LMAN1 Mandy nesbitt reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 KNG1 Mandy nesbitt reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 KLKB1 Mandy nesbitt reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 KDSR Mandy nesbitt reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ITGB3 Mandy nesbitt reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 ITGA2B Mandy nesbitt reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 ITGA2 Mandy nesbitt reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.22 HPS6 Mandy nesbitt reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 HPS5 Mandy nesbitt reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 HPS4 Mandy nesbitt reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 HPS3 Mandy nesbitt reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 HPS1 Mandy nesbitt reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 HOXA11 Mandy nesbitt reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 GP9 Mandy nesbitt reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 GP6 Mandy nesbitt reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 GP1BB Mandy nesbitt reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 GP1BA Mandy nesbitt reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME, 177820 von Willebrand disease, platelet-type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 GNE Mandy nesbitt reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 GGCX Mandy nesbitt reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 GFI1B Mandy nesbitt reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 GBA Mandy nesbitt reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 GATA1 Mandy nesbitt reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.22 FYB1 Mandy nesbitt reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 FLNA Mandy nesbitt reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and platelet disorders v0.22 FLI1 Mandy nesbitt reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 FGG Mandy nesbitt reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 FGB Mandy nesbitt reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 FGA Mandy nesbitt reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 FERMT3 Mandy nesbitt reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 F9 Mandy nesbitt reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F8 Mandy nesbitt reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F7 Mandy nesbitt reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F5 Mandy nesbitt reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F2R Mandy nesbitt reviewed gene: F2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 F2 Mandy nesbitt reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F13B Mandy nesbitt reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F13A1 Mandy nesbitt reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F12 Mandy nesbitt reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 F11 Mandy nesbitt reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 F10 Mandy nesbitt reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ETV6 Mandy nesbitt reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 ENG Mandy nesbitt reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 DTNBP1 Mandy nesbitt reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 DIAPH1 Mandy nesbitt reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 CYCS Mandy nesbitt reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 CDC42 Mandy nesbitt reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 BLOC1S6 Mandy nesbitt reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 BLOC1S3 Mandy nesbitt reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ARPC1B Mandy nesbitt reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 AP3D1 Mandy nesbitt reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 AP3B1 Mandy nesbitt reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ANO6 Mandy nesbitt reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ANKRD26 Mandy nesbitt reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 ADAMTS13 Mandy nesbitt reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.22 ACVRL1 Mandy nesbitt reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.22 ACTN1 Mandy nesbitt reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.22 ABCG8 Mandy nesbitt reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.22 ABCG5 Mandy nesbitt reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.21 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS
Bleeding and platelet disorders v0.21 VWF Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
Bleeding and platelet disorders v0.21 VPS33B Louise Daugherty Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Bleeding and platelet disorders v0.21 VKORC1 Louise Daugherty Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
Bleeding and platelet disorders v0.21 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.21 TUBB1 Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Bleeding and platelet disorders v0.21 THPO Louise Daugherty Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Bleeding and platelet disorders v0.21 THBD Louise Daugherty Added phenotypes AD bleeding disorder for gene: THBD
Publications for gene THBD were changed from 25049278; 27479822; 28267383; 29145514 to 25564403
Bleeding and platelet disorders v0.21 TBXAS1 Louise Daugherty Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Bleeding and platelet disorders v0.21 TBXA2R Louise Daugherty Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Bleeding and platelet disorders v0.21 STXBP2 Louise Daugherty Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Bleeding and platelet disorders v0.21 STIM1 Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Bleeding and platelet disorders v0.21 SRC Louise Daugherty Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Bleeding and platelet disorders v0.21 SLFN14 Louise Daugherty Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Bleeding and platelet disorders v0.21 SERPINF2 Louise Daugherty Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Bleeding and platelet disorders v0.21 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Bleeding and platelet disorders v0.21 RUNX1 Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Bleeding and platelet disorders v0.21 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Bleeding and platelet disorders v0.21 RASGRP2 Louise Daugherty Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Bleeding and platelet disorders v0.21 PTGS1 Louise Daugherty Added phenotypes 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Bleeding and platelet disorders v0.21 PRKACG Louise Daugherty Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Bleeding and platelet disorders v0.21 PLAU Louise Daugherty Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Bleeding and platelet disorders v0.21 PLA2G4A Louise Daugherty Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A
Bleeding and platelet disorders v0.21 P2RY12 Louise Daugherty Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
Bleeding and platelet disorders v0.21 NBEAL2 Louise Daugherty Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.21 MYH9 Louise Daugherty Added phenotypes 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Bleeding and platelet disorders v0.21 MPL Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Bleeding and platelet disorders v0.21 MPIG6B Louise Daugherty Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Bleeding and platelet disorders v0.21 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Bleeding and platelet disorders v0.21 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Bleeding and platelet disorders v0.21 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Bleeding and platelet disorders v0.21 KNG1 Louise Daugherty Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1
Bleeding and platelet disorders v0.21 KLKB1 Louise Daugherty Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Bleeding and platelet disorders v0.21 KDSR Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Bleeding and platelet disorders v0.21 ITGB3 Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Bleeding and platelet disorders v0.21 ITGA2B Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Bleeding and platelet disorders v0.21 ITGA2 Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Bleeding and platelet disorders v0.21 HPS6 Louise Daugherty Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Bleeding and platelet disorders v0.21 HPS5 Louise Daugherty Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Bleeding and platelet disorders v0.21 HPS4 Louise Daugherty Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Bleeding and platelet disorders v0.21 HPS3 Louise Daugherty Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Bleeding and platelet disorders v0.21 HPS1 Louise Daugherty Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Bleeding and platelet disorders v0.21 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Bleeding and platelet disorders v0.21 GP9 Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP9
Bleeding and platelet disorders v0.21 GP6 Louise Daugherty Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Bleeding and platelet disorders v0.21 GP1BB Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP1BB
Bleeding and platelet disorders v0.21 GP1BA Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME; 177820 von Willebrand disease, platelet-type for gene: GP1BA
Bleeding and platelet disorders v0.21 GNE Louise Daugherty Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE
Bleeding and platelet disorders v0.21 GGCX Louise Daugherty Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Bleeding and platelet disorders v0.21 GFI1B Louise Daugherty Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Bleeding and platelet disorders v0.21 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Bleeding and platelet disorders v0.21 GATA1 Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Bleeding and platelet disorders v0.21 FYB1 Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Bleeding and platelet disorders v0.21 FLNA Louise Daugherty Added phenotypes Macrothrombocytopenia for gene: FLNA
Bleeding and platelet disorders v0.21 FLI1 Louise Daugherty Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1
Bleeding and platelet disorders v0.21 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Bleeding and platelet disorders v0.21 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB
Bleeding and platelet disorders v0.21 FGA Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Bleeding and platelet disorders v0.21 FERMT3 Louise Daugherty Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Bleeding and platelet disorders v0.21 F9 Louise Daugherty Added phenotypes 306900 Haemophilia B for gene: F9
Bleeding and platelet disorders v0.21 F8 Louise Daugherty Added phenotypes 306700 Haemophilia A for gene: F8
Bleeding and platelet disorders v0.21 F7 Louise Daugherty Added phenotypes 227500 Factor VII deficiency for gene: F7
Bleeding and platelet disorders v0.21 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency for gene: F5
Bleeding and platelet disorders v0.21 F2R Louise Daugherty Added phenotypes Type 1 VWD for gene: F2R
Bleeding and platelet disorders v0.21 F2 Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
Bleeding and platelet disorders v0.21 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.21 F13A1 Louise Daugherty Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Bleeding and platelet disorders v0.21 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.21 F11 Louise Daugherty Added phenotypes 612416 Factor XI deficiency for gene: F11
Bleeding and platelet disorders v0.21 F10 Louise Daugherty Added phenotypes 227600 Factor X deficiency for gene: F10
Bleeding and platelet disorders v0.21 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Bleeding and platelet disorders v0.21 ENG Louise Daugherty Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Bleeding and platelet disorders v0.21 DTNBP1 Louise Daugherty Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Bleeding and platelet disorders v0.21 DIAPH1 Louise Daugherty Added phenotypes 124900 Macrothrombocytopenia and hearing loss for gene: DIAPH1
Bleeding and platelet disorders v0.21 CYCS Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Bleeding and platelet disorders v0.21 CDC42 Louise Daugherty Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Bleeding and platelet disorders v0.21 BLOC1S6 Louise Daugherty Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Bleeding and platelet disorders v0.21 BLOC1S3 Louise Daugherty Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Bleeding and platelet disorders v0.21 ARPC1B Louise Daugherty Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Bleeding and platelet disorders v0.21 AP3D1 Louise Daugherty Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Bleeding and platelet disorders v0.21 AP3B1 Louise Daugherty Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Bleeding and platelet disorders v0.21 ANO6 Louise Daugherty Added phenotypes 262890 Scott syndrome for gene: ANO6
Bleeding and platelet disorders v0.21 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Bleeding and platelet disorders v0.21 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Bleeding and platelet disorders v0.21 ACVRL1 Louise Daugherty Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Bleeding and platelet disorders v0.21 ACTN1 Louise Daugherty Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Bleeding and platelet disorders v0.21 ABCG8 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Bleeding and platelet disorders v0.21 ABCG5 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Bleeding and platelet disorders v0.19 WAS Louise Daugherty Source Yorkshire and North East GLH was added to WAS.
Bleeding and platelet disorders v0.19 VWF Louise Daugherty Source Yorkshire and North East GLH was added to VWF.
Bleeding and platelet disorders v0.19 VPS33B Louise Daugherty Source Yorkshire and North East GLH was added to VPS33B.
Bleeding and platelet disorders v0.19 VKORC1 Louise Daugherty Source Yorkshire and North East GLH was added to VKORC1.
Bleeding and platelet disorders v0.19 VIPAS39 Louise Daugherty Source Yorkshire and North East GLH was added to VIPAS39.
Bleeding and platelet disorders v0.19 TUBB1 Louise Daugherty Source Yorkshire and North East GLH was added to TUBB1.
Bleeding and platelet disorders v0.19 TPM4 Louise Daugherty Source Yorkshire and North East GLH was added to TPM4.
Bleeding and platelet disorders v0.19 THPO Louise Daugherty Source Yorkshire and North East GLH was added to THPO.
Bleeding and platelet disorders v0.19 THBD Louise Daugherty Source Yorkshire and North East GLH was added to THBD.
Bleeding and platelet disorders v0.19 TBXAS1 Louise Daugherty Source Yorkshire and North East GLH was added to TBXAS1.
Bleeding and platelet disorders v0.19 TBXA2R Louise Daugherty Source Yorkshire and North East GLH was added to TBXA2R.
Bleeding and platelet disorders v0.19 STXBP2 Louise Daugherty Source Yorkshire and North East GLH was added to STXBP2.
Bleeding and platelet disorders v0.19 STIM1 Louise Daugherty Source Yorkshire and North East GLH was added to STIM1.
Bleeding and platelet disorders v0.19 SRC Louise Daugherty Source Yorkshire and North East GLH was added to SRC.
Bleeding and platelet disorders v0.19 SLFN14 Louise Daugherty Source Yorkshire and North East GLH was added to SLFN14.
Bleeding and platelet disorders v0.19 SERPINF2 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINF2.
Bleeding and platelet disorders v0.19 SERPINE1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINE1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.19 RUNX1 Louise Daugherty Source Yorkshire and North East GLH was added to RUNX1.
Bleeding and platelet disorders v0.19 RBM8A Louise Daugherty Source Yorkshire and North East GLH was added to RBM8A.
Bleeding and platelet disorders v0.19 RASGRP2 Louise Daugherty Source Yorkshire and North East GLH was added to RASGRP2.
Bleeding and platelet disorders v0.19 PTGS1 Louise Daugherty Source Yorkshire and North East GLH was added to PTGS1.
Bleeding and platelet disorders v0.19 PRKACG Louise Daugherty Source Yorkshire and North East GLH was added to PRKACG.
Bleeding and platelet disorders v0.19 PLAU Louise Daugherty Source Yorkshire and North East GLH was added to PLAU.
Bleeding and platelet disorders v0.19 PLA2G4A Louise Daugherty Source Yorkshire and North East GLH was added to PLA2G4A.
Bleeding and platelet disorders v0.19 P2RY12 Louise Daugherty Source Yorkshire and North East GLH was added to P2RY12.
Bleeding and platelet disorders v0.19 NBEAL2 Louise Daugherty Source Yorkshire and North East GLH was added to NBEAL2.
Bleeding and platelet disorders v0.19 MYH9 Louise Daugherty Source Yorkshire and North East GLH was added to MYH9.
Bleeding and platelet disorders v0.19 MPL Louise Daugherty Source Yorkshire and North East GLH was added to MPL.
Bleeding and platelet disorders v0.19 MPIG6B Louise Daugherty Source Yorkshire and North East GLH was added to MPIG6B.
Bleeding and platelet disorders v0.19 MECOM Louise Daugherty Source Yorkshire and North East GLH was added to MECOM.
Bleeding and platelet disorders v0.19 MCFD2 Louise Daugherty Source Yorkshire and North East GLH was added to MCFD2.
Bleeding and platelet disorders v0.19 LMAN1 Louise Daugherty Source Yorkshire and North East GLH was added to LMAN1.
Bleeding and platelet disorders v0.19 KNG1 Louise Daugherty Source Yorkshire and North East GLH was added to KNG1.
Bleeding and platelet disorders v0.19 KLKB1 Louise Daugherty Source Yorkshire and North East GLH was added to KLKB1.
Bleeding and platelet disorders v0.19 KDSR Louise Daugherty Source Yorkshire and North East GLH was added to KDSR.
Bleeding and platelet disorders v0.19 ITGB3 Louise Daugherty Source Yorkshire and North East GLH was added to ITGB3.
Bleeding and platelet disorders v0.19 ITGA2B Louise Daugherty Source Yorkshire and North East GLH was added to ITGA2B.
Bleeding and platelet disorders v0.19 ITGA2 Louise Daugherty Source Yorkshire and North East GLH was added to ITGA2.
Bleeding and platelet disorders v0.19 HPS6 Louise Daugherty Source Yorkshire and North East GLH was added to HPS6.
Bleeding and platelet disorders v0.19 HPS5 Louise Daugherty Source Yorkshire and North East GLH was added to HPS5.
Bleeding and platelet disorders v0.19 HPS4 Louise Daugherty Source Yorkshire and North East GLH was added to HPS4.
Bleeding and platelet disorders v0.19 HPS3 Louise Daugherty Source Yorkshire and North East GLH was added to HPS3.
Bleeding and platelet disorders v0.19 HPS1 Louise Daugherty Source Yorkshire and North East GLH was added to HPS1.
Bleeding and platelet disorders v0.19 HOXA11 Louise Daugherty Source Yorkshire and North East GLH was added to HOXA11.
Bleeding and platelet disorders v0.19 GP9 Louise Daugherty Source Yorkshire and North East GLH was added to GP9.
Bleeding and platelet disorders v0.19 GP6 Louise Daugherty Source Yorkshire and North East GLH was added to GP6.
Bleeding and platelet disorders v0.19 GP1BB Louise Daugherty Source Yorkshire and North East GLH was added to GP1BB.
Bleeding and platelet disorders v0.19 GP1BA Louise Daugherty Source Yorkshire and North East GLH was added to GP1BA.
Bleeding and platelet disorders v0.19 GNE Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
Bleeding and platelet disorders v0.19 GGCX Louise Daugherty Source Yorkshire and North East GLH was added to GGCX.
Bleeding and platelet disorders v0.19 GFI1B Louise Daugherty Source Yorkshire and North East GLH was added to GFI1B.
Bleeding and platelet disorders v0.19 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Bleeding and platelet disorders v0.19 GATA1 Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
Bleeding and platelet disorders v0.19 FYB1 Louise Daugherty Source Yorkshire and North East GLH was added to FYB1.
Bleeding and platelet disorders v0.19 FLNA Louise Daugherty Source Yorkshire and North East GLH was added to FLNA.
Bleeding and platelet disorders v0.19 FLI1 Louise Daugherty Source Yorkshire and North East GLH was added to FLI1.
Bleeding and platelet disorders v0.19 FGG Louise Daugherty Source Yorkshire and North East GLH was added to FGG.
Bleeding and platelet disorders v0.19 FGB Louise Daugherty Source Yorkshire and North East GLH was added to FGB.
Bleeding and platelet disorders v0.19 FGA Louise Daugherty Source Yorkshire and North East GLH was added to FGA.
Bleeding and platelet disorders v0.19 FERMT3 Louise Daugherty Source Yorkshire and North East GLH was added to FERMT3.
Bleeding and platelet disorders v0.19 F9 Louise Daugherty Source Yorkshire and North East GLH was added to F9.
Bleeding and platelet disorders v0.19 F8 Louise Daugherty Source Yorkshire and North East GLH was added to F8.
Bleeding and platelet disorders v0.19 F7 Louise Daugherty Source Yorkshire and North East GLH was added to F7.
Bleeding and platelet disorders v0.19 F5 Louise Daugherty Source Yorkshire and North East GLH was added to F5.
Bleeding and platelet disorders v0.19 F2R Louise Daugherty Source Yorkshire and North East GLH was added to F2R.
Bleeding and platelet disorders v0.19 F2 Louise Daugherty Source Yorkshire and North East GLH was added to F2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.19 F13B Louise Daugherty Source Yorkshire and North East GLH was added to F13B.
Bleeding and platelet disorders v0.19 F13A1 Louise Daugherty Source Yorkshire and North East GLH was added to F13A1.
Bleeding and platelet disorders v0.19 F12 Louise Daugherty Source Yorkshire and North East GLH was added to F12.
Bleeding and platelet disorders v0.19 F11 Louise Daugherty Source Yorkshire and North East GLH was added to F11.
Bleeding and platelet disorders v0.19 F10 Louise Daugherty Source Yorkshire and North East GLH was added to F10.
Bleeding and platelet disorders v0.19 ETV6 Louise Daugherty Source Yorkshire and North East GLH was added to ETV6.
Bleeding and platelet disorders v0.19 ENG Louise Daugherty Source Yorkshire and North East GLH was added to ENG.
Bleeding and platelet disorders v0.19 DTNBP1 Louise Daugherty Source Yorkshire and North East GLH was added to DTNBP1.
Bleeding and platelet disorders v0.19 DIAPH1 Louise Daugherty Source Yorkshire and North East GLH was added to DIAPH1.
Bleeding and platelet disorders v0.19 CYCS Louise Daugherty Source Yorkshire and North East GLH was added to CYCS.
Bleeding and platelet disorders v0.19 CDC42 Louise Daugherty Source Yorkshire and North East GLH was added to CDC42.
Bleeding and platelet disorders v0.19 BLOC1S6 Louise Daugherty Source Yorkshire and North East GLH was added to BLOC1S6.
Bleeding and platelet disorders v0.19 BLOC1S3 Louise Daugherty Source Yorkshire and North East GLH was added to BLOC1S3.
Bleeding and platelet disorders v0.19 ARPC1B Louise Daugherty Source Yorkshire and North East GLH was added to ARPC1B.
Bleeding and platelet disorders v0.19 AP3D1 Louise Daugherty Source Yorkshire and North East GLH was added to AP3D1.
Bleeding and platelet disorders v0.19 AP3B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP3B1.
Bleeding and platelet disorders v0.19 ANO6 Louise Daugherty Source Yorkshire and North East GLH was added to ANO6.
Bleeding and platelet disorders v0.19 ANKRD26 Louise Daugherty Source Yorkshire and North East GLH was added to ANKRD26.
Bleeding and platelet disorders v0.19 ADAMTS13 Louise Daugherty Source Yorkshire and North East GLH was added to ADAMTS13.
Bleeding and platelet disorders v0.19 ACVRL1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVRL1.
Bleeding and platelet disorders v0.19 ACTN1 Louise Daugherty Source Yorkshire and North East GLH was added to ACTN1.
Bleeding and platelet disorders v0.19 ABCG8 Louise Daugherty Source Yorkshire and North East GLH was added to ABCG8.
Bleeding and platelet disorders v0.19 ABCG5 Louise Daugherty Source Yorkshire and North East GLH was added to ABCG5.
Bleeding and platelet disorders v0.18 SERPINE1 Louise Daugherty Classified gene: SERPINE1 as Green List (high evidence)
Bleeding and platelet disorders v0.18 SERPINE1 Louise Daugherty Gene: serpine1 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.17 SERPINE1 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.17 F2 Louise Daugherty Classified gene: F2 as Green List (high evidence)
Bleeding and platelet disorders v0.17 F2 Louise Daugherty Gene: f2 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.16 F2 Louise Daugherty Classified gene: F2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.16 F2 Louise Daugherty Gene: f2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.15 SERPINE1 Louise Daugherty Classified gene: SERPINE1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.15 SERPINE1 Louise Daugherty Gene: serpine1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.14 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.14 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted
Bleeding and platelet disorders v0.14 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.14 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.14 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.14 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SLC45A2 Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 SERPINE1 Louise Daugherty commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Bleeding and platelet disorders v0.14 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PTPRJ Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.14 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.14 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.14 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 KNG1 Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.14 KLKB1 Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 KDSR Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted
Bleeding and platelet disorders v0.14 ITGB3 Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ITGA2B Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ITGA2 Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS6 Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS5 Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS4 Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS3 Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HPS1 Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP9 Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP6 Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP1BB Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GP1BA Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GNE Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 GGCX Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GFI1B Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Bleeding and platelet disorders v0.14 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FLNA Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 FLI1 Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.14 FERMT3 Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F9 Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F8 Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F7 Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F2R Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F2 Louise Daugherty commented on gene: F2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F13B Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F13A1 Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F12 Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F11 Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 F10 Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.14 EPHB2 Louise Daugherty commented on gene: EPHB2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ENG Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.14 DTNBP1 Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.14 DIAPH1 Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 CYCS Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.14 CDC42 Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.14 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ARPC1B Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.14 AP3D1 Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.14 AP3B1 Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ANO6 Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Provide exceptions to loss-of-function rule for mode of pathogenicity if applicable: Other - please provide details in the comments; Comment: Gain of function variants in 5'UTR.
Bleeding and platelet disorders v0.14 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ACTN1 Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ACTB Louise Daugherty commented on gene: ACTB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.14 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.14 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.13 SERPINE1 Louise Daugherty Mode of inheritance for gene: SERPINE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.12 F2 Louise Daugherty Mode of inheritance for gene: F2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.11 SERPINE1 Louise Daugherty Source NHS GMS was added to SERPINE1.
Bleeding and platelet disorders v0.11 F2 Louise Daugherty Source NHS GMS was added to F2.
Bleeding and platelet disorders v0.10 WAS Louise Daugherty commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted
Bleeding and platelet disorders v0.10 VWF Louise Daugherty commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted
Bleeding and platelet disorders v0.10 VPS33B Louise Daugherty commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 VKORC1 Louise Daugherty commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted
Bleeding and platelet disorders v0.10 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TUBB1 Louise Daugherty commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TPM4 Louise Daugherty commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 THPO Louise Daugherty commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 THBD Louise Daugherty commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TBXAS1 Louise Daugherty commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 TBXA2R Louise Daugherty commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted
Bleeding and platelet disorders v0.10 STXBP2 Louise Daugherty commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted
Bleeding and platelet disorders v0.10 STIM1 Louise Daugherty commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SRC Louise Daugherty commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SLFN14 Louise Daugherty commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SLC45A2 Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SERPINF2 Louise Daugherty commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 SERPINE1 Louise Daugherty reviewed gene: SERPINE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.10 RUNX1 Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted
Bleeding and platelet disorders v0.10 RBM8A Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 RASGRP2 Louise Daugherty commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PTPRJ Louise Daugherty commented on gene: PTPRJ: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PTGS1 Louise Daugherty commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PRKACG Louise Daugherty commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PLAU Louise Daugherty commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted
Bleeding and platelet disorders v0.10 PLA2G4A Louise Daugherty commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.10 P2RY12 Louise Daugherty commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted
Bleeding and platelet disorders v0.10 NBEAL2 Louise Daugherty commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 NBEA Louise Daugherty commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 MYH9 Louise Daugherty commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted
Bleeding and platelet disorders v0.10 MPL Louise Daugherty commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted
Bleeding and platelet disorders v0.10 MPIG6B Louise Daugherty commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted
Bleeding and platelet disorders v0.10 MECOM Louise Daugherty commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted
Bleeding and platelet disorders v0.10 MCFD2 Louise Daugherty commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted
Bleeding and platelet disorders v0.10 LMAN1 Louise Daugherty commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 KNG1 Louise Daugherty commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted
Bleeding and platelet disorders v0.10 KLKB1 Louise Daugherty commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 KDSR Louise Daugherty commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted
Bleeding and platelet disorders v0.10 ITGB3 Louise Daugherty commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ITGA2B Louise Daugherty commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ITGA2 Louise Daugherty commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 HPS6 Louise Daugherty commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted
Bleeding and platelet disorders v0.10 HPS5 Louise Daugherty commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted
Bleeding and platelet disorders v0.10 HPS4 Louise Daugherty commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted
Bleeding and platelet disorders v0.10 HPS3 Louise Daugherty commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted
Bleeding and platelet disorders v0.10 HPS1 Louise Daugherty commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 HOXA11 Louise Daugherty commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GP9 Louise Daugherty commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GP6 Louise Daugherty commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GP1BB Louise Daugherty commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GP1BA Louise Daugherty commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GNE Louise Daugherty commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.10 GGCX Louise Daugherty commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GFI1B Louise Daugherty commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Bleeding and platelet disorders v0.10 GATA1 Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
Bleeding and platelet disorders v0.10 FYB1 Louise Daugherty commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted
Bleeding and platelet disorders v0.10 FLNA Louise Daugherty commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.10 FLI1 Louise Daugherty commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted
Bleeding and platelet disorders v0.10 FGG Louise Daugherty commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.10 FGB Louise Daugherty commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.10 FGA Louise Daugherty commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted
Bleeding and platelet disorders v0.10 FERMT3 Louise Daugherty commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F9 Louise Daugherty commented on gene: F9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F8 Louise Daugherty commented on gene: F8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F7 Louise Daugherty commented on gene: F7: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F5 Louise Daugherty commented on gene: F5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F2R Louise Daugherty commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F2 Louise Daugherty reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.10 F13B Louise Daugherty commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F13A1 Louise Daugherty commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F12 Louise Daugherty commented on gene: F12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F11 Louise Daugherty commented on gene: F11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F10 Louise Daugherty commented on gene: F10: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ETV6 Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted
Bleeding and platelet disorders v0.10 EPHB2 Louise Daugherty commented on gene: EPHB2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ENG Louise Daugherty commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted
Bleeding and platelet disorders v0.10 DTNBP1 Louise Daugherty commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted
Bleeding and platelet disorders v0.10 DIAPH1 Louise Daugherty commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.10 CYCS Louise Daugherty commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted
Bleeding and platelet disorders v0.10 CDC42 Louise Daugherty commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted
Bleeding and platelet disorders v0.10 BLOC1S3 Louise Daugherty commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ARPC1B Louise Daugherty commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted
Bleeding and platelet disorders v0.10 AP3D1 Louise Daugherty commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted
Bleeding and platelet disorders v0.10 AP3B1 Louise Daugherty commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ANO6 Louise Daugherty commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ANKRD26 Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Provide exceptions to loss-of-function rule for mode of pathogenicity if applicable: Other - please provide details in the comments; Comment: Gain of function variants in 5'UTR.
Bleeding and platelet disorders v0.10 ADAMTS13 Louise Daugherty commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ACTN1 Louise Daugherty commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ACTB Louise Daugherty commented on gene: ACTB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted
Bleeding and platelet disorders v0.10 ABCG8 Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.10 ABCG5 Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted
Bleeding and platelet disorders v0.9 WAS Michael Mitchell reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.9 VWF Michael Mitchell reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 VPS33B Michael Mitchell reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 VKORC1 Michael Mitchell reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 VIPAS39 Michael Mitchell reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 TUBB1 Michael Mitchell reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 TPM4 Michael Mitchell reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.9 THPO Michael Mitchell reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 THBD Michael Mitchell reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 TBXAS1 Michael Mitchell reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 TBXA2R Michael Mitchell reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 STXBP2 Michael Mitchell reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 STIM1 Michael Mitchell reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 SRC Michael Mitchell reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.9 SLFN14 Michael Mitchell reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 SLC45A2 Michael Mitchell reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 SERPINF2 Michael Mitchell reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 SERPINE1 Michael Mitchell reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 RUNX1 Michael Mitchell reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 RBM8A Michael Mitchell reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 RASGRP2 Michael Mitchell reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 PTPRJ Michael Mitchell reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 PTGS1 Michael Mitchell reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12, BDPLT12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 PRKACG Michael Mitchell reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 PLAU Michael Mitchell reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 PLA2G4A Michael Mitchell reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 P2RY12 Michael Mitchell reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 NBEAL2 Michael Mitchell reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090, Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 NBEA Michael Mitchell reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 MYH9 Michael Mitchell reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 MPL Michael Mitchell reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 MPIG6B Michael Mitchell reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 MECOM Michael Mitchell reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.9 MCFD2 Michael Mitchell reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 LMAN1 Michael Mitchell reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 KNG1 Michael Mitchell reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 KLKB1 Michael Mitchell reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 KDSR Michael Mitchell reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 ITGB3 Michael Mitchell reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ITGA2B Michael Mitchell reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ITGA2 Michael Mitchell reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 HPS6 Michael Mitchell reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 HPS5 Michael Mitchell reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 HPS4 Michael Mitchell reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 HPS3 Michael Mitchell reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 HPS1 Michael Mitchell reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 HOXA11 Michael Mitchell reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GP9 Michael Mitchell reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200.BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GP6 Michael Mitchell reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GP1BB Michael Mitchell reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200.BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GP1BA Michael Mitchell reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200.BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GNE Michael Mitchell reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GGCX Michael Mitchell reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GFI1B Michael Mitchell reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 GBA Michael Mitchell reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 GATA1 Michael Mitchell reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.9 FYB1 Michael Mitchell reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 FLNA Michael Mitchell reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.9 FLI1 Michael Mitchell reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 FGG Michael Mitchell reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 FGB Michael Mitchell reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 FGA Michael Mitchell reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 FERMT3 Michael Mitchell reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F9 Michael Mitchell reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F8 Michael Mitchell reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F7 Michael Mitchell reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F5 Michael Mitchell reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F2R Michael Mitchell reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F2 Michael Mitchell reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F13B Michael Mitchell reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F13A1 Michael Mitchell reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F12 Michael Mitchell reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F11 Michael Mitchell reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 F10 Michael Mitchell reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ETV6 Michael Mitchell reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 EPHB2 Michael Mitchell reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 ENG Michael Mitchell reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.9 DTNBP1 Michael Mitchell reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 DIAPH1 Michael Mitchell reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss, (NO OMIM NUMBER); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 CYCS Michael Mitchell reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 CDC42 Michael Mitchell reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 BLOC1S6 Michael Mitchell reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 BLOC1S3 Michael Mitchell reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ARPC1B Michael Mitchell reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 AP3D1 Michael Mitchell reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 AP3B1 Michael Mitchell reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ANO6 Michael Mitchell reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ANKRD26 Michael Mitchell reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ADAMTS13 Michael Mitchell reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ACVRL1 Michael Mitchell reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders v0.9 ACTN1 Michael Mitchell reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Bleeding and platelet disorders v0.9 ACTB Michael Mitchell reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD thrombocytopenia, (NO OMIM NUMBER); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders v0.9 ABCG8 Michael Mitchell reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.9 ABCG5 Michael Mitchell reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.8 WAS Louise Daugherty Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS
Bleeding and platelet disorders v0.8 VWF Louise Daugherty Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
Bleeding and platelet disorders v0.8 VPS33B Louise Daugherty Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Bleeding and platelet disorders v0.8 VKORC1 Louise Daugherty Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
Bleeding and platelet disorders v0.8 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.8 TUBB1 Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Bleeding and platelet disorders v0.8 THPO Louise Daugherty Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Bleeding and platelet disorders v0.8 THBD Louise Daugherty Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Bleeding and platelet disorders v0.8 TBXAS1 Louise Daugherty Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1
Bleeding and platelet disorders v0.8 TBXA2R Louise Daugherty Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Bleeding and platelet disorders v0.8 STXBP2 Louise Daugherty Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Bleeding and platelet disorders v0.8 STIM1 Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Bleeding and platelet disorders v0.8 SRC Louise Daugherty Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Bleeding and platelet disorders v0.8 SLFN14 Louise Daugherty Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Bleeding and platelet disorders v0.8 SLC45A2 Louise Daugherty Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2
Bleeding and platelet disorders v0.8 SERPINF2 Louise Daugherty Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Bleeding and platelet disorders v0.8 SERPINE1 Louise Daugherty Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1
Bleeding and platelet disorders v0.8 RUNX1 Louise Daugherty Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Bleeding and platelet disorders v0.8 RBM8A Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Bleeding and platelet disorders v0.8 RASGRP2 Louise Daugherty Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Bleeding and platelet disorders v0.8 PTGS1 Louise Daugherty Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Bleeding and platelet disorders v0.8 PRKACG Louise Daugherty Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Bleeding and platelet disorders v0.8 PLAU Louise Daugherty Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Bleeding and platelet disorders v0.8 PLA2G4A Louise Daugherty Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A
Bleeding and platelet disorders v0.8 P2RY12 Louise Daugherty Added phenotypes 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12 for gene: P2RY12
Bleeding and platelet disorders v0.8 NBEAL2 Louise Daugherty Added phenotypes 139090, Gray platelet syndrome for gene: NBEAL2
Bleeding and platelet disorders v0.8 MYH9 Louise Daugherty Added phenotypes 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Bleeding and platelet disorders v0.8 MPL Louise Daugherty Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Bleeding and platelet disorders v0.8 MPIG6B Louise Daugherty Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Bleeding and platelet disorders v0.8 MECOM Louise Daugherty Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Bleeding and platelet disorders v0.8 MCFD2 Louise Daugherty Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Bleeding and platelet disorders v0.8 LMAN1 Louise Daugherty Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Bleeding and platelet disorders v0.8 KNG1 Louise Daugherty Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1
Bleeding and platelet disorders v0.8 KLKB1 Louise Daugherty Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Bleeding and platelet disorders v0.8 KDSR Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Bleeding and platelet disorders v0.8 ITGB3 Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Bleeding and platelet disorders v0.8 ITGA2B Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Bleeding and platelet disorders v0.8 ITGA2 Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Bleeding and platelet disorders v0.8 HPS6 Louise Daugherty Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Bleeding and platelet disorders v0.8 HPS5 Louise Daugherty Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Bleeding and platelet disorders v0.8 HPS4 Louise Daugherty Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Bleeding and platelet disorders v0.8 HPS3 Louise Daugherty Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Bleeding and platelet disorders v0.8 HPS1 Louise Daugherty Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Bleeding and platelet disorders v0.8 HOXA11 Louise Daugherty Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Bleeding and platelet disorders v0.8 GP9 Louise Daugherty Added phenotypes 231200BERNARD-SOULIER SYNDROME; BSS for gene: GP9
Bleeding and platelet disorders v0.8 GP6 Louise Daugherty Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Bleeding and platelet disorders v0.8 GP1BB Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Bleeding and platelet disorders v0.8 GP1BA Louise Daugherty Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA
Bleeding and platelet disorders v0.8 GNE Louise Daugherty Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE
Bleeding and platelet disorders v0.8 GGCX Louise Daugherty Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Bleeding and platelet disorders v0.8 GFI1B Louise Daugherty Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Bleeding and platelet disorders v0.8 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Bleeding and platelet disorders v0.8 GATA1 Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Bleeding and platelet disorders v0.8 FYB1 Louise Daugherty Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Bleeding and platelet disorders v0.8 FLNA Louise Daugherty Added phenotypes Macrothrombocytopenia for gene: FLNA
Bleeding and platelet disorders v0.8 FLI1 Louise Daugherty Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1
Bleeding and platelet disorders v0.8 FGG Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Bleeding and platelet disorders v0.8 FGB Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Bleeding and platelet disorders v0.8 FGA Louise Daugherty Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Bleeding and platelet disorders v0.8 FERMT3 Louise Daugherty Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Bleeding and platelet disorders v0.8 F9 Louise Daugherty Added phenotypes 306900 Haemophilia B for gene: F9
Bleeding and platelet disorders v0.8 F8 Louise Daugherty Added phenotypes 306700 Haemophilia A for gene: F8
Bleeding and platelet disorders v0.8 F7 Louise Daugherty Added phenotypes 227500 Factor VII deficiency for gene: F7
Bleeding and platelet disorders v0.8 F5 Louise Daugherty Added phenotypes 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden} for gene: F5
Bleeding and platelet disorders v0.8 F2 Louise Daugherty Added phenotypes 613679 Factor II deficiency for gene: F2
Bleeding and platelet disorders v0.8 F13B Louise Daugherty Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Bleeding and platelet disorders v0.8 F13A1 Louise Daugherty Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Bleeding and platelet disorders v0.8 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.8 F11 Louise Daugherty Added phenotypes 612416 Factor XI deficiency for gene: F11
Bleeding and platelet disorders v0.8 F10 Louise Daugherty Added phenotypes 227600 Factor X deficiency for gene: F10
Bleeding and platelet disorders v0.8 ETV6 Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Bleeding and platelet disorders v0.8 ENG Louise Daugherty Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Bleeding and platelet disorders v0.8 DTNBP1 Louise Daugherty Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Bleeding and platelet disorders v0.8 DIAPH1 Louise Daugherty Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1
Bleeding and platelet disorders v0.8 CYCS Louise Daugherty Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Bleeding and platelet disorders v0.8 CDC42 Louise Daugherty Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Bleeding and platelet disorders v0.8 BLOC1S6 Louise Daugherty Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Bleeding and platelet disorders v0.8 BLOC1S3 Louise Daugherty Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Bleeding and platelet disorders v0.8 ARPC1B Louise Daugherty Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Bleeding and platelet disorders v0.8 AP3D1 Louise Daugherty Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Bleeding and platelet disorders v0.8 AP3B1 Louise Daugherty Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Bleeding and platelet disorders v0.8 ANO6 Louise Daugherty Added phenotypes 262890 Scott syndrome for gene: ANO6
Bleeding and platelet disorders v0.8 ANKRD26 Louise Daugherty Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Bleeding and platelet disorders v0.8 ADAMTS13 Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Bleeding and platelet disorders v0.8 ACVRL1 Louise Daugherty Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Bleeding and platelet disorders v0.8 ACTN1 Louise Daugherty Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Bleeding and platelet disorders v0.8 ACTB Louise Daugherty Added phenotypes AD thrombocytopenia for gene: ACTB
Bleeding and platelet disorders v0.8 ABCG8 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Bleeding and platelet disorders v0.8 ABCG5 Louise Daugherty Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Bleeding and platelet disorders v0.7 WAS Louise Daugherty Source London South GLH was added to WAS.
Bleeding and platelet disorders v0.7 VWF Louise Daugherty Source London South GLH was added to VWF.
Bleeding and platelet disorders v0.7 VPS33B Louise Daugherty Source London South GLH was added to VPS33B.
Bleeding and platelet disorders v0.7 VKORC1 Louise Daugherty Source London South GLH was added to VKORC1.
Bleeding and platelet disorders v0.7 VIPAS39 Louise Daugherty Source London South GLH was added to VIPAS39.
Bleeding and platelet disorders v0.7 TUBB1 Louise Daugherty Source London South GLH was added to TUBB1.
Bleeding and platelet disorders v0.7 TPM4 Louise Daugherty Source London South GLH was added to TPM4.
Bleeding and platelet disorders v0.7 THPO Louise Daugherty Source London South GLH was added to THPO.
Bleeding and platelet disorders v0.7 THBD Louise Daugherty Source London South GLH was added to THBD.
Bleeding and platelet disorders v0.7 TBXAS1 Louise Daugherty Source London South GLH was added to TBXAS1.
Bleeding and platelet disorders v0.7 TBXA2R Louise Daugherty Source London South GLH was added to TBXA2R.
Bleeding and platelet disorders v0.7 STXBP2 Louise Daugherty Source London South GLH was added to STXBP2.
Bleeding and platelet disorders v0.7 STIM1 Louise Daugherty Source London South GLH was added to STIM1.
Bleeding and platelet disorders v0.7 SRC Louise Daugherty Source London South GLH was added to SRC.
Bleeding and platelet disorders v0.7 SLFN14 Louise Daugherty Source London South GLH was added to SLFN14.
Bleeding and platelet disorders v0.7 SLC45A2 Louise Daugherty Source London South GLH was added to SLC45A2.
Bleeding and platelet disorders v0.7 SERPINF2 Louise Daugherty Source London South GLH was added to SERPINF2.
Bleeding and platelet disorders v0.7 SERPINE1 Louise Daugherty gene: SERPINE1 was added
gene: SERPINE1 was added to Bleeding and platelet disorders. Sources: London South GLH
Mode of inheritance for gene: SERPINE1 was set to
Bleeding and platelet disorders v0.7 RUNX1 Louise Daugherty Source London South GLH was added to RUNX1.
Bleeding and platelet disorders v0.7 RBM8A Louise Daugherty Source London South GLH was added to RBM8A.
Bleeding and platelet disorders v0.7 RASGRP2 Louise Daugherty Source London South GLH was added to RASGRP2.
Bleeding and platelet disorders v0.7 PTPRJ Louise Daugherty Source London South GLH was added to PTPRJ.
Bleeding and platelet disorders v0.7 PTGS1 Louise Daugherty Source London South GLH was added to PTGS1.
Bleeding and platelet disorders v0.7 PRKACG Louise Daugherty Source London South GLH was added to PRKACG.
Bleeding and platelet disorders v0.7 PLAU Louise Daugherty Source London South GLH was added to PLAU.
Bleeding and platelet disorders v0.7 PLA2G4A Louise Daugherty Source London South GLH was added to PLA2G4A.
Bleeding and platelet disorders v0.7 P2RY12 Louise Daugherty Source London South GLH was added to P2RY12.
Bleeding and platelet disorders v0.7 NBEAL2 Louise Daugherty Source London South GLH was added to NBEAL2.
Bleeding and platelet disorders v0.7 NBEA Louise Daugherty Source London South GLH was added to NBEA.
Bleeding and platelet disorders v0.7 MYH9 Louise Daugherty Source London South GLH was added to MYH9.
Bleeding and platelet disorders v0.7 MPL Louise Daugherty Source London South GLH was added to MPL.
Bleeding and platelet disorders v0.7 MPIG6B Louise Daugherty Source London South GLH was added to MPIG6B.
Bleeding and platelet disorders v0.7 MECOM Louise Daugherty Source London South GLH was added to MECOM.
Bleeding and platelet disorders v0.7 MCFD2 Louise Daugherty Source London South GLH was added to MCFD2.
Bleeding and platelet disorders v0.7 LMAN1 Louise Daugherty Source London South GLH was added to LMAN1.
Bleeding and platelet disorders v0.7 KNG1 Louise Daugherty Source London South GLH was added to KNG1.
Bleeding and platelet disorders v0.7 KLKB1 Louise Daugherty Source London South GLH was added to KLKB1.
Bleeding and platelet disorders v0.7 KDSR Louise Daugherty Source London South GLH was added to KDSR.
Bleeding and platelet disorders v0.7 ITGB3 Louise Daugherty Source London South GLH was added to ITGB3.
Bleeding and platelet disorders v0.7 ITGA2B Louise Daugherty Source London South GLH was added to ITGA2B.
Bleeding and platelet disorders v0.7 ITGA2 Louise Daugherty Source London South GLH was added to ITGA2.
Bleeding and platelet disorders v0.7 HPS6 Louise Daugherty Source London South GLH was added to HPS6.
Bleeding and platelet disorders v0.7 HPS5 Louise Daugherty Source London South GLH was added to HPS5.
Bleeding and platelet disorders v0.7 HPS4 Louise Daugherty Source London South GLH was added to HPS4.
Bleeding and platelet disorders v0.7 HPS3 Louise Daugherty Source London South GLH was added to HPS3.
Bleeding and platelet disorders v0.7 HPS1 Louise Daugherty Source London South GLH was added to HPS1.
Bleeding and platelet disorders v0.7 HOXA11 Louise Daugherty Source London South GLH was added to HOXA11.
Bleeding and platelet disorders v0.7 GP9 Louise Daugherty Source London South GLH was added to GP9.
Bleeding and platelet disorders v0.7 GP6 Louise Daugherty Source London South GLH was added to GP6.
Bleeding and platelet disorders v0.7 GP1BB Louise Daugherty Source London South GLH was added to GP1BB.
Bleeding and platelet disorders v0.7 GP1BA Louise Daugherty Source London South GLH was added to GP1BA.
Bleeding and platelet disorders v0.7 GNE Louise Daugherty Source London South GLH was added to GNE.
Bleeding and platelet disorders v0.7 GGCX Louise Daugherty Source London South GLH was added to GGCX.
Bleeding and platelet disorders v0.7 GFI1B Louise Daugherty Source London South GLH was added to GFI1B.
Bleeding and platelet disorders v0.7 GBA Louise Daugherty Source London South GLH was added to GBA.
Bleeding and platelet disorders v0.7 GATA1 Louise Daugherty Source London South GLH was added to GATA1.
Bleeding and platelet disorders v0.7 FYB1 Louise Daugherty Source London South GLH was added to FYB1.
Bleeding and platelet disorders v0.7 FLNA Louise Daugherty Source London South GLH was added to FLNA.
Bleeding and platelet disorders v0.7 FLI1 Louise Daugherty Source London South GLH was added to FLI1.
Bleeding and platelet disorders v0.7 FGG Louise Daugherty Source London South GLH was added to FGG.
Bleeding and platelet disorders v0.7 FGB Louise Daugherty Source London South GLH was added to FGB.
Bleeding and platelet disorders v0.7 FGA Louise Daugherty Source London South GLH was added to FGA.
Bleeding and platelet disorders v0.7 FERMT3 Louise Daugherty Source London South GLH was added to FERMT3.
Bleeding and platelet disorders v0.7 F9 Louise Daugherty Source London South GLH was added to F9.
Bleeding and platelet disorders v0.7 F8 Louise Daugherty Source London South GLH was added to F8.
Bleeding and platelet disorders v0.7 F7 Louise Daugherty Source London South GLH was added to F7.
Bleeding and platelet disorders v0.7 F5 Louise Daugherty Source London South GLH was added to F5.
Bleeding and platelet disorders v0.7 F2R Louise Daugherty Source London South GLH was added to F2R.
Bleeding and platelet disorders v0.7 F2 Louise Daugherty gene: F2 was added
gene: F2 was added to Bleeding and platelet disorders. Sources: London South GLH
Mode of inheritance for gene: F2 was set to
Bleeding and platelet disorders v0.7 F13B Louise Daugherty Source London South GLH was added to F13B.
Bleeding and platelet disorders v0.7 F13A1 Louise Daugherty Source London South GLH was added to F13A1.
Bleeding and platelet disorders v0.7 F12 Louise Daugherty Source London South GLH was added to F12.
Bleeding and platelet disorders v0.7 F11 Louise Daugherty Source London South GLH was added to F11.
Bleeding and platelet disorders v0.7 F10 Louise Daugherty Source London South GLH was added to F10.
Bleeding and platelet disorders v0.7 ETV6 Louise Daugherty Source London South GLH was added to ETV6.
Bleeding and platelet disorders v0.7 EPHB2 Louise Daugherty Source London South GLH was added to EPHB2.
Bleeding and platelet disorders v0.7 ENG Louise Daugherty Source London South GLH was added to ENG.
Bleeding and platelet disorders v0.7 DTNBP1 Louise Daugherty Source London South GLH was added to DTNBP1.
Bleeding and platelet disorders v0.7 DIAPH1 Louise Daugherty Source London South GLH was added to DIAPH1.
Bleeding and platelet disorders v0.7 CYCS Louise Daugherty Source London South GLH was added to CYCS.
Bleeding and platelet disorders v0.7 CDC42 Louise Daugherty Source London South GLH was added to CDC42.
Bleeding and platelet disorders v0.7 BLOC1S6 Louise Daugherty Source London South GLH was added to BLOC1S6.
Bleeding and platelet disorders v0.7 BLOC1S3 Louise Daugherty Source London South GLH was added to BLOC1S3.
Bleeding and platelet disorders v0.7 ARPC1B Louise Daugherty Source London South GLH was added to ARPC1B.
Bleeding and platelet disorders v0.7 AP3D1 Louise Daugherty Source London South GLH was added to AP3D1.
Bleeding and platelet disorders v0.7 AP3B1 Louise Daugherty Source London South GLH was added to AP3B1.
Bleeding and platelet disorders v0.7 ANO6 Louise Daugherty Source London South GLH was added to ANO6.
Bleeding and platelet disorders v0.7 ANKRD26 Louise Daugherty Source London South GLH was added to ANKRD26.
Bleeding and platelet disorders v0.7 ADAMTS13 Louise Daugherty Source London South GLH was added to ADAMTS13.
Bleeding and platelet disorders v0.7 ACVRL1 Louise Daugherty Source London South GLH was added to ACVRL1.
Bleeding and platelet disorders v0.7 ACTN1 Louise Daugherty Source London South GLH was added to ACTN1.
Bleeding and platelet disorders v0.7 ACTB Louise Daugherty Source London South GLH was added to ACTB.
Bleeding and platelet disorders v0.7 ABCG8 Louise Daugherty Source London South GLH was added to ABCG8.
Bleeding and platelet disorders v0.7 ABCG5 Louise Daugherty Source London South GLH was added to ABCG5.
Bleeding and platelet disorders v0.6 MKL1 Louise Daugherty commented on gene: MKL1: New HGNC approved gene symbol for MKL1 is MRTFA
Bleeding and platelet disorders v0.6 MKL1 Louise Daugherty Tag new-gene-name tag was added to gene: MKL1.
Bleeding and platelet disorders v0.6 WAS Louise Daugherty reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VWF Louise Daugherty reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VPS33B Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VKORC1 Louise Daugherty reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 VIPAS39 Louise Daugherty reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 UNC13D Louise Daugherty reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TUBB1 Louise Daugherty reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TRPM7 Louise Daugherty reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TPM4 Louise Daugherty reviewed gene: TPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 THPO Louise Daugherty reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 THBD Louise Daugherty reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TBXAS1 Louise Daugherty reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 TBXA2R Louise Daugherty reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 STXBP2 Louise Daugherty reviewed gene: STXBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 STX11 Louise Daugherty reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SRC Louise Daugherty reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SLFN14 Louise Daugherty reviewed gene: SLFN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SLC45A2 Louise Daugherty reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 SERPINF2 Louise Daugherty reviewed gene: SERPINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RUNX1 Louise Daugherty reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RGS2 Louise Daugherty reviewed gene: RGS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RBM8A Louise Daugherty reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 RASGRP2 Louise Daugherty reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PTPRJ Louise Daugherty reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PTPN11 Louise Daugherty reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PTGS1 Louise Daugherty reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PRKACG Louise Daugherty reviewed gene: PRKACG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PLAU Louise Daugherty reviewed gene: PLAU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 PLA2G4A Louise Daugherty reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 P2RY12 Louise Daugherty reviewed gene: P2RY12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 P2RX1 Louise Daugherty reviewed gene: P2RX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 NBEAL2 Louise Daugherty reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 NBEA Louise Daugherty reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MYH9 Louise Daugherty reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MKL1 Louise Daugherty reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MPL Louise Daugherty reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MPIG6B Louise Daugherty reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MECOM Louise Daugherty reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 MCFD2 Louise Daugherty reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 LMAN1 Louise Daugherty reviewed gene: LMAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 KNG1 Louise Daugherty reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 KLKB1 Louise Daugherty reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 KDSR Louise Daugherty reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ITGB3 Louise Daugherty reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ITGA2B Louise Daugherty reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ITGA2 Louise Daugherty reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS6 Louise Daugherty reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS5 Louise Daugherty reviewed gene: HPS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS4 Louise Daugherty reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS3 Louise Daugherty reviewed gene: HPS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HPS1 Louise Daugherty reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 HOXA11 Louise Daugherty reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP9 Louise Daugherty reviewed gene: GP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP6 Louise Daugherty reviewed gene: GP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP1BB Louise Daugherty reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GP1BA Louise Daugherty reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GGCX Louise Daugherty reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GFI1B Louise Daugherty reviewed gene: GFI1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GATA1 Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 GALE Louise Daugherty reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FYB1 Louise Daugherty reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FLNA Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FLI1 Louise Daugherty reviewed gene: FLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FGG Louise Daugherty reviewed gene: FGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FGB Louise Daugherty reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FGA Louise Daugherty reviewed gene: FGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 FERMT3 Louise Daugherty reviewed gene: FERMT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F9 Louise Daugherty reviewed gene: F9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F8 Louise Daugherty reviewed gene: F8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F7 Louise Daugherty reviewed gene: F7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F5 Louise Daugherty reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F2R Louise Daugherty reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F13B Louise Daugherty reviewed gene: F13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F13A1 Louise Daugherty reviewed gene: F13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F12 Louise Daugherty reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F11 Louise Daugherty reviewed gene: F11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 F10 Louise Daugherty reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ETV6 Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 EPHB2 Louise Daugherty reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ENG Louise Daugherty reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 DTNBP1 Louise Daugherty reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 DIAPH1 Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 CYCS Louise Daugherty reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 COL5A2 Louise Daugherty reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 COL5A1 Louise Daugherty reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v0.6 COL1A1 Louise Daugherty reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v0.6 CDC42 Louise Daugherty reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 BLOC1S3 Louise Daugherty reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ARPC1B Louise Daugherty reviewed gene: ARPC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 AP3D1 Louise Daugherty reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 AP3B1 Louise Daugherty reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ANO6 Louise Daugherty reviewed gene: ANO6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ANKRD26 Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ADAMTS13 Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ACTN1 Louise Daugherty reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ABCG8 Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.6 ABCG5 Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 WAS Carl Fratter reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VWF Carl Fratter reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VPS33B Carl Fratter reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VKORC1 Carl Fratter reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 VIPAS39 Carl Fratter reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 UNC13D Carl Fratter reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 TUBB1 Carl Fratter reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 TRPM7 Carl Fratter reviewed gene: TRPM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 TPM4 Carl Fratter reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 THPO Carl Fratter reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 THBD Carl Fratter reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 TBXAS1 Carl Fratter reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 TBXA2R Carl Fratter reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 STXBP2 Carl Fratter reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 STX11 Carl Fratter reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 STIM1 Carl Fratter reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SRC Carl Fratter reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SMAD4 Carl Fratter reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SLFN14 Carl Fratter reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 SLC45A2 Carl Fratter reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 SERPINF2 Carl Fratter reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 RUNX1 Carl Fratter reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 RNU4ATAC Carl Fratter reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 RGS2 Carl Fratter reviewed gene: RGS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 RBM8A Carl Fratter reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 RASGRP2 Carl Fratter reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 PTPRJ Carl Fratter reviewed gene: PTPRJ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 PTPN11 Carl Fratter reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 PTGS1 Carl Fratter reviewed gene: PTGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 PRKACG Carl Fratter reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 PLAU Carl Fratter reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 PLA2G4A Carl Fratter reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 P2RY12 Carl Fratter reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 P2RX1 Carl Fratter reviewed gene: P2RX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 NBEAL2 Carl Fratter reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 NBEA Carl Fratter reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 MYH9 Carl Fratter reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 MKL1 Carl Fratter reviewed gene: MKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 MPL Carl Fratter reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 MPIG6B Carl Fratter reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 MECOM Carl Fratter reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 MCFD2 Carl Fratter reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 LYST Carl Fratter reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 LMAN1 Carl Fratter reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 KNG1 Carl Fratter reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 KLKB1 Carl Fratter reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 KDSR Carl Fratter reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 ITGB3 Carl Fratter reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ITGA2B Carl Fratter reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ITGA2 Carl Fratter reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS6 Carl Fratter reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS5 Carl Fratter reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS4 Carl Fratter reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS3 Carl Fratter reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HPS1 Carl Fratter reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 HOXA11 Carl Fratter reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP9 Carl Fratter reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP6 Carl Fratter reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP1BB Carl Fratter reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GP1BA Carl Fratter reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GNE Carl Fratter reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 GGCX Carl Fratter reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GFI1B Carl Fratter reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GBA Carl Fratter reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GATA1 Carl Fratter reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 GALE Carl Fratter reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 FYB1 Carl Fratter reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FLNA Carl Fratter reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FLI1 Carl Fratter reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FGG Carl Fratter reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FGB Carl Fratter reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FGA Carl Fratter reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 FERMT3 Carl Fratter reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F9 Carl Fratter reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F8 Carl Fratter reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F7 Carl Fratter reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F5 Carl Fratter reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F2R Carl Fratter reviewed gene: F2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 F13B Carl Fratter reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F13A1 Carl Fratter reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F12 Carl Fratter reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F11 Carl Fratter reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 F10 Carl Fratter reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ETV6 Carl Fratter reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 EPHB2 Carl Fratter reviewed gene: EPHB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 ENG Carl Fratter reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 DTNBP1 Carl Fratter reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 DIAPH1 Carl Fratter reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 CYCS Carl Fratter reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 COL5A2 Carl Fratter reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 COL5A1 Carl Fratter reviewed gene: COL5A1: Rating: GREEN; 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 v0.5 COL1A1 Carl Fratter reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
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 v0.5 CDC42 Carl Fratter reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 BLOC1S6 Carl Fratter reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 BLOC1S3 Carl Fratter reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ARPC1B Carl Fratter reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 AP3D1 Carl Fratter reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 AP3B1 Carl Fratter reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ANO6 Carl Fratter reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ANKRD26 Carl Fratter reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ADAMTS13 Carl Fratter reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ACVRL1 Carl Fratter reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ACTN1 Carl Fratter reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ACTB Carl Fratter reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ABCG8 Carl Fratter reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.5 ABCG5 Carl Fratter reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 WAS Louise Daugherty Source NHS GMS was added to WAS.
Bleeding and platelet disorders v0.4 VWF Louise Daugherty Source NHS GMS was added to VWF.
Bleeding and platelet disorders v0.4 VPS33B Louise Daugherty Source NHS GMS was added to VPS33B.
Bleeding and platelet disorders v0.4 VKORC1 Louise Daugherty Source NHS GMS was added to VKORC1.
Bleeding and platelet disorders v0.4 VIPAS39 Louise Daugherty Source NHS GMS was added to VIPAS39.
Bleeding and platelet disorders v0.4 UNC13D Louise Daugherty Source NHS GMS was added to UNC13D.
Bleeding and platelet disorders v0.4 TUBB1 Louise Daugherty Source NHS GMS was added to TUBB1.
Bleeding and platelet disorders v0.4 TRPM7 Louise Daugherty Source NHS GMS was added to TRPM7.
Bleeding and platelet disorders v0.4 TPM4 Louise Daugherty Source NHS GMS was added to TPM4.
Bleeding and platelet disorders v0.4 THPO Louise Daugherty Source NHS GMS was added to THPO.
Bleeding and platelet disorders v0.4 THBD Louise Daugherty Source NHS GMS was added to THBD.
Bleeding and platelet disorders v0.4 TBXAS1 Louise Daugherty Source NHS GMS was added to TBXAS1.
Bleeding and platelet disorders v0.4 TBXA2R Louise Daugherty Source NHS GMS was added to TBXA2R.
Bleeding and platelet disorders v0.4 STXBP2 Louise Daugherty Source NHS GMS was added to STXBP2.
Bleeding and platelet disorders v0.4 STX11 Louise Daugherty Source NHS GMS was added to STX11.
Bleeding and platelet disorders v0.4 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Bleeding and platelet disorders v0.4 SRC Louise Daugherty Source NHS GMS was added to SRC.
Bleeding and platelet disorders v0.4 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Bleeding and platelet disorders v0.4 SLFN14 Louise Daugherty Source NHS GMS was added to SLFN14.
Bleeding and platelet disorders v0.4 SLC45A2 Louise Daugherty Source NHS GMS was added to SLC45A2.
Bleeding and platelet disorders v0.4 SERPINF2 Louise Daugherty Source NHS GMS was added to SERPINF2.
Bleeding and platelet disorders v0.4 RUNX1 Louise Daugherty Source NHS GMS was added to RUNX1.
Bleeding and platelet disorders v0.4 RNU4ATAC Louise Daugherty Source NHS GMS was added to RNU4ATAC.
Bleeding and platelet disorders v0.4 RGS2 Louise Daugherty Source NHS GMS was added to RGS2.
Bleeding and platelet disorders v0.4 RBM8A Louise Daugherty Source NHS GMS was added to RBM8A.
Bleeding and platelet disorders v0.4 RASGRP2 Louise Daugherty Source NHS GMS was added to RASGRP2.
Bleeding and platelet disorders v0.4 PTPRJ Louise Daugherty Source NHS GMS was added to PTPRJ.
Bleeding and platelet disorders v0.4 PTPN11 Louise Daugherty Source NHS GMS was added to PTPN11.
Bleeding and platelet disorders v0.4 PTGS1 Louise Daugherty Source NHS GMS was added to PTGS1.
Bleeding and platelet disorders v0.4 PRKACG Louise Daugherty Source NHS GMS was added to PRKACG.
Bleeding and platelet disorders v0.4 PLAU Louise Daugherty Source NHS GMS was added to PLAU.
Bleeding and platelet disorders v0.4 PLA2G4A Louise Daugherty Source NHS GMS was added to PLA2G4A.
Bleeding and platelet disorders v0.4 P2RY12 Louise Daugherty Source NHS GMS was added to P2RY12.
Bleeding and platelet disorders v0.4 P2RX1 Louise Daugherty Source NHS GMS was added to P2RX1.
Bleeding and platelet disorders v0.4 NBEAL2 Louise Daugherty Source NHS GMS was added to NBEAL2.
Bleeding and platelet disorders v0.4 NBEA Louise Daugherty Source NHS GMS was added to NBEA.
Bleeding and platelet disorders v0.4 MYH9 Louise Daugherty Source NHS GMS was added to MYH9.
Bleeding and platelet disorders v0.4 MKL1 Louise Daugherty Source NHS GMS was added to MKL1.
Bleeding and platelet disorders v0.4 MPL Louise Daugherty Source NHS GMS was added to MPL.
Bleeding and platelet disorders v0.4 MPIG6B Louise Daugherty Source NHS GMS was added to MPIG6B.
Bleeding and platelet disorders v0.4 MECOM Louise Daugherty Source NHS GMS was added to MECOM.
Bleeding and platelet disorders v0.4 MCFD2 Louise Daugherty Source NHS GMS was added to MCFD2.
Bleeding and platelet disorders v0.4 LYST Louise Daugherty Source NHS GMS was added to LYST.
Bleeding and platelet disorders v0.4 LMAN1 Louise Daugherty Source NHS GMS was added to LMAN1.
Bleeding and platelet disorders v0.4 KNG1 Louise Daugherty Source NHS GMS was added to KNG1.
Bleeding and platelet disorders v0.4 KLKB1 Louise Daugherty Source NHS GMS was added to KLKB1.
Bleeding and platelet disorders v0.4 KDSR Louise Daugherty Source NHS GMS was added to KDSR.
Bleeding and platelet disorders v0.4 ITGB3 Louise Daugherty Source NHS GMS was added to ITGB3.
Bleeding and platelet disorders v0.4 ITGA2B Louise Daugherty Source NHS GMS was added to ITGA2B.
Bleeding and platelet disorders v0.4 ITGA2 Louise Daugherty Source NHS GMS was added to ITGA2.
Bleeding and platelet disorders v0.4 HPS6 Louise Daugherty Source NHS GMS was added to HPS6.
Bleeding and platelet disorders v0.4 HPS5 Louise Daugherty Source NHS GMS was added to HPS5.
Bleeding and platelet disorders v0.4 HPS4 Louise Daugherty Source NHS GMS was added to HPS4.
Bleeding and platelet disorders v0.4 HPS3 Louise Daugherty Source NHS GMS was added to HPS3.
Bleeding and platelet disorders v0.4 HPS1 Louise Daugherty Source NHS GMS was added to HPS1.
Bleeding and platelet disorders v0.4 HOXA11 Louise Daugherty Source NHS GMS was added to HOXA11.
Bleeding and platelet disorders v0.4 GP9 Louise Daugherty Source NHS GMS was added to GP9.
Bleeding and platelet disorders v0.4 GP6 Louise Daugherty Source NHS GMS was added to GP6.
Bleeding and platelet disorders v0.4 GP1BB Louise Daugherty Source NHS GMS was added to GP1BB.
Bleeding and platelet disorders v0.4 GP1BA Louise Daugherty Source NHS GMS was added to GP1BA.
Bleeding and platelet disorders v0.4 GNE Louise Daugherty Source NHS GMS was added to GNE.
Bleeding and platelet disorders v0.4 GGCX Louise Daugherty Source NHS GMS was added to GGCX.
Bleeding and platelet disorders v0.4 GFI1B Louise Daugherty Source NHS GMS was added to GFI1B.
Bleeding and platelet disorders v0.4 GBA Louise Daugherty Source NHS GMS was added to GBA.
Bleeding and platelet disorders v0.4 GATA1 Louise Daugherty Source NHS GMS was added to GATA1.
Bleeding and platelet disorders v0.4 GALE Louise Daugherty Source NHS GMS was added to GALE.
Bleeding and platelet disorders v0.4 FYB1 Louise Daugherty Source NHS GMS was added to FYB1.
Bleeding and platelet disorders v0.4 FLNA Louise Daugherty Source NHS GMS was added to FLNA.
Bleeding and platelet disorders v0.4 FLI1 Louise Daugherty Source NHS GMS was added to FLI1.
Bleeding and platelet disorders v0.4 FGG Louise Daugherty Source NHS GMS was added to FGG.
Bleeding and platelet disorders v0.4 FGB Louise Daugherty Source NHS GMS was added to FGB.
Bleeding and platelet disorders v0.4 FGA Louise Daugherty Source NHS GMS was added to FGA.
Bleeding and platelet disorders v0.4 FERMT3 Louise Daugherty Source NHS GMS was added to FERMT3.
Bleeding and platelet disorders v0.4 F9 Louise Daugherty Source NHS GMS was added to F9.
Bleeding and platelet disorders v0.4 F8 Louise Daugherty Source NHS GMS was added to F8.
Bleeding and platelet disorders v0.4 F7 Louise Daugherty Source NHS GMS was added to F7.
Bleeding and platelet disorders v0.4 F5 Louise Daugherty Source NHS GMS was added to F5.
Bleeding and platelet disorders v0.4 F2R Louise Daugherty Source NHS GMS was added to F2R.
Bleeding and platelet disorders v0.4 F13B Louise Daugherty Source NHS GMS was added to F13B.
Bleeding and platelet disorders v0.4 F13A1 Louise Daugherty Source NHS GMS was added to F13A1.
Bleeding and platelet disorders v0.4 F12 Louise Daugherty Source NHS GMS was added to F12.
Bleeding and platelet disorders v0.4 F11 Louise Daugherty Source NHS GMS was added to F11.
Bleeding and platelet disorders v0.4 F10 Louise Daugherty Source NHS GMS was added to F10.
Bleeding and platelet disorders v0.4 ETV6 Louise Daugherty Source NHS GMS was added to ETV6.
Bleeding and platelet disorders v0.4 EPHB2 Louise Daugherty Source NHS GMS was added to EPHB2.
Bleeding and platelet disorders v0.4 ENG Louise Daugherty Source NHS GMS was added to ENG.
Bleeding and platelet disorders v0.4 DTNBP1 Louise Daugherty Source NHS GMS was added to DTNBP1.
Bleeding and platelet disorders v0.4 DIAPH1 Louise Daugherty Source NHS GMS was added to DIAPH1.
Bleeding and platelet disorders v0.4 CYCS Louise Daugherty Source NHS GMS was added to CYCS.
Bleeding and platelet disorders v0.4 COL5A2 Louise Daugherty Source NHS GMS was added to COL5A2.
Bleeding and platelet disorders v0.4 COL5A1 Louise Daugherty Source NHS GMS was added to COL5A1.
Bleeding and platelet disorders v0.4 COL3A1 Louise Daugherty Source NHS GMS was added to COL3A1.
Bleeding and platelet disorders v0.4 COL1A1 Louise Daugherty Source NHS GMS was added to COL1A1.
Bleeding and platelet disorders v0.4 CHST14 Louise Daugherty Source NHS GMS was added to CHST14.
Bleeding and platelet disorders v0.4 CDC42 Louise Daugherty Source NHS GMS was added to CDC42.
Bleeding and platelet disorders v0.4 BLOC1S6 Louise Daugherty Source NHS GMS was added to BLOC1S6.
Bleeding and platelet disorders v0.4 BLOC1S3 Louise Daugherty Source NHS GMS was added to BLOC1S3.
Bleeding and platelet disorders v0.4 ARPC1B Louise Daugherty Source NHS GMS was added to ARPC1B.
Bleeding and platelet disorders v0.4 AP3D1 Louise Daugherty Source NHS GMS was added to AP3D1.
Bleeding and platelet disorders v0.4 AP3B1 Louise Daugherty Source NHS GMS was added to AP3B1.
Bleeding and platelet disorders v0.4 ANO6 Louise Daugherty Source NHS GMS was added to ANO6.
Bleeding and platelet disorders v0.4 ANKRD26 Louise Daugherty Source NHS GMS was added to ANKRD26.
Bleeding and platelet disorders v0.4 ADAMTS13 Louise Daugherty Source NHS GMS was added to ADAMTS13.
Bleeding and platelet disorders v0.4 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Bleeding and platelet disorders v0.4 ACTN1 Louise Daugherty Source NHS GMS was added to ACTN1.
Bleeding and platelet disorders v0.4 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Bleeding and platelet disorders v0.4 ABCG8 Louise Daugherty Source NHS GMS was added to ABCG8.
Bleeding and platelet disorders v0.4 ABCG5 Louise Daugherty Source NHS GMS was added to ABCG5.
Bleeding and platelet disorders v0.3 WAS Louise Daugherty Source Expert Review Green was added to WAS.
Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300299 Neutropenia, severe congenital, X-linked; 313900 Thrombocytopenia, X-linked intermittent; 301000 Wiskott-Aldrich syndrome for gene: WAS
Publications for gene WAS were changed from to 20173115; 15284122; 17400488
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VWF Louise Daugherty Source Expert Review Green was added to VWF.
Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF
Publications for gene VWF were changed from to 16985174; 23407766; 28971901
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VPS33B Louise Daugherty Source Expert Review Green was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B
Publications for gene VPS33B were changed from to 15052268; 16896922; 22753090
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VKORC1 Louise Daugherty Source Expert Review Green was added to VKORC1.
Mode of inheritance for gene VKORC1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1
Publications for gene VKORC1 were changed from to 26287237; 14765194; 20946155
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 VIPAS39 Louise Daugherty Source Expert Review Green was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Publications for gene VIPAS39 were changed from to 22753090; 28039895; 20190753
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 UNC13D Louise Daugherty Source Expert Review Green was added to UNC13D.
Mode of inheritance for gene UNC13D was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene UNC13D were changed from to 28399723; 28748566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TUBB1 Louise Daugherty Source Expert Review Green was added to TUBB1.
Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1
Publications for gene TUBB1 were changed from to 27479822; 27905099; 24344610
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TRPM7 Louise Daugherty Source Expert Review Green was added to TRPM7.
Mode of inheritance for gene TRPM7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes macrothrombocytopenia; (NO OMIM NUMBER OR DISEASE NAME for gene: TRPM7
Publications for gene TRPM7 were changed from to 27020697
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TPM4 Louise Daugherty Source Expert Review Green was added to TPM4.
Mode of inheritance for gene TPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene TPM4 were changed from to 27479822; 28134622
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 THPO Louise Daugherty Source Expert Review Green was added to THPO.
Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO
Publications for gene THPO were changed from to 28466964; 28559357; 29191945
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 THBD Louise Daugherty Source Expert Review Green was added to THBD.
Mode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD
Publications for gene THBD were changed from to 25049278; 27479822; 28267383; 29145514
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TBXAS1 Louise Daugherty Source Expert Review Green was added to TBXAS1.
Mode of inheritance for gene TBXAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 231095 Ghosal hematodiaphyseal syndrome; 614158 ?Thromboxane synthase deficiency for gene: TBXAS1
Publications for gene TBXAS1 were changed from to 18264100; 28868793
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 TBXA2R Louise Daugherty Source Expert Review Green was added to TBXA2R.
Mode of inheritance for gene TBXA2R was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R
Publications for gene TBXA2R were changed from to 22517902; 8972034; 24452735; 30089223; 19828703; 8428006
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 STXBP2 Louise Daugherty Source Expert Review Green was added to STXBP2.
Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2
Publications for gene STXBP2 were changed from to 20798128; 25564401; 19804848
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 STX11 Louise Daugherty Source Expert Review Green was added to STX11.
Mode of inheritance for gene STX11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene STX11 were changed from to 28399723
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 STIM1 Louise Daugherty Source Expert Review Green was added to STIM1.
Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 185070 Stormorken syndrome for gene: STIM1
Publications for gene STIM1 were changed from to 19420366; 27876257
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SRC Louise Daugherty Source Expert Review Green was added to SRC.
Mode of inheritance for gene SRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC
Publications for gene SRC were changed from to 26936507
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SMAD4 Louise Daugherty Source Expert Review Green was added to SMAD4.
Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome for gene: SMAD4
Publications for gene SMAD4 were changed from to 25269631; 24001356; 30251589; 16613914
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SLFN14 Louise Daugherty Source Expert Review Green was added to SLFN14.
Mode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14
Publications for gene SLFN14 were changed from to 26769223; 26280575
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SLC45A2 Louise Daugherty Source Expert Review Green was added to SLC45A2.
Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2
Publications for gene SLC45A2 were changed from to none submitted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 SERPINF2 Louise Daugherty Source Expert Review Green was added to SERPINF2.
Mode of inheritance for gene SERPINF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2
Publications for gene SERPINF2 were changed from to 14999928; 29656168; 17961166
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RUNX1 Louise Daugherty Source Expert Review Green was added to RUNX1.
Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Publications for gene RUNX1 were changed from to 28240786; 24100448; 10508512
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RNU4ATAC Louise Daugherty Source Expert Review Green was added to RNU4ATAC.
Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome for gene: RNU4ATAC
Publications for gene RNU4ATAC were changed from to none submitted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RGS2 Louise Daugherty Source Expert Review Green was added to RGS2.
Mode of inheritance for gene RGS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene RGS2 were changed from to 20403096; 28784619
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RBM8A Louise Daugherty Source Expert Review Green was added to RBM8A.
Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A
Publications for gene RBM8A were changed from to 22366785; 24053387
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 RASGRP2 Louise Daugherty Source Expert Review Green was added to RASGRP2.
Mode of inheritance for gene RASGRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2
Publications for gene RASGRP2 were changed from to 28637664; 27235135; 28762304
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PTPRJ Louise Daugherty Source Expert Review Green was added to PTPRJ.
Mode of inheritance for gene PTPRJ was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene PTPRJ were changed from to 30591527
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PTPN11 Louise Daugherty Source Expert Review Green was added to PTPN11.
Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 163950 Noonan syndrome 1 for gene: PTPN11
Publications for gene PTPN11 were changed from to none submitted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PTGS1 Louise Daugherty Source Expert Review Green was added to PTGS1.
Mode of inheritance for gene PTGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1
Publications for gene PTGS1 were changed from to 11442478; 27629384; 8562397; 28748566; 6103258
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PRKACG Louise Daugherty Source Expert Review Green was added to PRKACG.
Mode of inheritance for gene PRKACG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Publications for gene PRKACG were changed from to 25061177
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PLAU Louise Daugherty Source Expert Review Green was added to PLAU.
Mode of inheritance for gene PLAU was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 601709 Quebec platelet disorder for gene: PLAU
Publications for gene PLAU were changed from to 28301587; 20007542
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 PLA2G4A Louise Daugherty Source Expert Review Green was added to PLA2G4A.
Mode of inheritance for gene PLA2G4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Phospholipase A2, group IV A, deficiency of; (NO OMIM NUMBER) for gene: PLA2G4A
Publications for gene PLA2G4A were changed from to 21247147; 18451993; 23268370
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 P2RY12 Louise Daugherty Source Expert Review Green was added to P2RY12.
Mode of inheritance for gene P2RY12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12
Publications for gene P2RY12 were changed from to 11196645; 609821; 20966167
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 P2RX1 Louise Daugherty Source Expert Review Green was added to P2RX1.
Mode of inheritance for gene P2RX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY for gene: P2RX1
Publications for gene P2RX1 were changed from to 10816552
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 NBEAL2 Louise Daugherty Source Expert Review Green was added to NBEAL2.
Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2
Publications for gene NBEAL2 were changed from to 21765412; 27870194; 21765411
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 NBEA Louise Daugherty Source Expert Review Green was added to NBEA.
Mode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene NBEA were changed from to 28748566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MYH9 Louise Daugherty Source Expert Review Green was added to MYH9.
Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Publications for gene MYH9 were changed from to 28368695; 29679756; 24186861
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MKL1 Louise Daugherty Source Expert Review Green was added to MKL1.
Mode of inheritance for gene MKL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene MKL1 were changed from to 27479822
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MPL Louise Daugherty Source Expert Review Green was added to MPL.
Mode of inheritance for gene MPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL
Publications for gene MPL were changed from to 16470591; 11133753; 22180433
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MPIG6B Louise Daugherty Source Expert Review Green was added to MPIG6B.
Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Publications for gene MPIG6B were changed from to 29898956; 27743390
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MECOM Louise Daugherty Source Expert Review Green was added to MECOM.
Mode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM
Publications for gene MECOM were changed from to 26581901; 29540340; 29519864
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 MCFD2 Louise Daugherty Source Expert Review Green was added to MCFD2.
Mode of inheritance for gene MCFD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2
Publications for gene MCFD2 were changed from to 20004600; 12717434; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 LYST Louise Daugherty Source Expert Review Green was added to LYST.
Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST
Publications for gene LYST were changed from to 9215680; 11857544; 21209802
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 LMAN1 Louise Daugherty Source Expert Review Green was added to LMAN1.
Mode of inheritance for gene LMAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1
Publications for gene LMAN1 were changed from to 10090934; 10090935; 16304051
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 KNG1 Louise Daugherty Source Expert Review Green was added to KNG1.
Mode of inheritance for gene KNG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 228960 [High molecular weight kininogen deficiency]; [Kininogen deficiency] for gene: KNG1
Publications for gene KNG1 were changed from to 12576314; 24492696; 7901207
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 KLKB1 Louise Daugherty Source Expert Review Green was added to KLKB1.
Mode of inheritance for gene KLKB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1
Publications for gene KLKB1 were changed from to 17598838; 14652634; 20301226
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 KDSR Louise Daugherty Source Expert Review Green was added to KDSR.
Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM NUMBER OR DISEASE); Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Publications for gene KDSR were changed from to 30467204
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ITGB3 Louise Daugherty Source Expert Review Green was added to ITGB3.
Mode of inheritance for gene ITGB3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3
Publications for gene ITGB3 were changed from to 19691478; 25728920; 20020534
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ITGA2B Louise Daugherty Source Expert Review Green was added to ITGA2B.
Mode of inheritance for gene ITGA2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B
Publications for gene ITGA2B were changed from to 29675921; 25728920; 24498605
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ITGA2 Louise Daugherty Source Expert Review Green was added to ITGA2.
Mode of inheritance for gene ITGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2
Publications for gene ITGA2 were changed from to 10590055
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS6 Louise Daugherty Source Expert Review Green was added to HPS6.
Mode of inheritance for gene HPS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6
Publications for gene HPS6 were changed from to 27514596; 27593200; 19843503
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS5 Louise Daugherty Source Expert Review Green was added to HPS5.
Mode of inheritance for gene HPS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5
Publications for gene HPS5 were changed from to 27514596; 28296950; 28640947
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS4 Louise Daugherty Source Expert Review Green was added to HPS4.
Mode of inheritance for gene HPS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4
Publications for gene HPS4 were changed from to 27514596; 12664304; 29108692
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS3 Louise Daugherty Source Expert Review Green was added to HPS3.
Mode of inheritance for gene HPS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3
Publications for gene HPS3 were changed from to 27514596; 11590544; 28284561
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HPS1 Louise Daugherty Source Expert Review Green was added to HPS1.
Mode of inheritance for gene HPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1
Publications for gene HPS1 were changed from to 27514596; 29345414; 12442288; 25707719
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 HOXA11 Louise Daugherty Source Expert Review Green was added to HOXA11.
Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Publications for gene HOXA11 were changed from to 16765069; 11101832
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP9 Louise Daugherty Source Expert Review Green was added to GP9.
Mode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes BSS; 231200.BERNARD-SOULIER SYNDROME for gene: GP9
Publications for gene GP9 were changed from to 24934643; 9616133; 21357716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP6 Louise Daugherty Source Expert Review Green was added to GP6.
Mode of inheritance for gene GP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6
Publications for gene GP6 were changed from to 19552682; 19549989
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP1BB Louise Daugherty Source Expert Review Green was added to GP1BB.
Mode of inheritance for gene GP1BB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Publications for gene GP1BB were changed from to 24934643; 9616133; 21357716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GP1BA Louise Daugherty Source Expert Review Green was added to GP1BA.
Mode of inheritance for gene GP1BA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA
Publications for gene GP1BA were changed from to 24934643; 9616133; 21357716
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GNE Louise Daugherty Source Expert Review Green was added to GNE.
Mode of inheritance for gene GNE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM NUMBER); Myopathy associated with thrombocytopenia for gene: GNE
Publications for gene GNE were changed from to 27479822; 29941673; 30171045
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GGCX Louise Daugherty Source Expert Review Green was added to GGCX.
Mode of inheritance for gene GGCX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX
Publications for gene GGCX were changed from to 25151188; 28679738; 21435120
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GFI1B Louise Daugherty Source Expert Review Green was added to GFI1B.
Mode of inheritance for gene GFI1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B
Publications for gene GFI1B were changed from to 23927492; 28041820
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GBA Louise Daugherty Source Expert Review Green was added to GBA.
Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Publications for gene GBA were changed from to 27265538; 27816428; 20575041
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GATA1 Louise Daugherty Source Expert Review Green was added to GATA1.
Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
Publications for gene GATA1 were changed from to 10700180; 23704091; 16103636
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 GALE Louise Daugherty Source Expert Review Green was added to GALE.
Mode of inheritance for gene GALE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM OR DISEASE); Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) for gene: GALE
Publications for gene GALE were changed from to 30247636
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FYB1 Louise Daugherty Source Expert Review Green was added to FYB1.
Mode of inheritance for gene FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Publications for gene FYB1 were changed from to 25516138; 25876182
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FLNA Louise Daugherty Source Expert Review Green was added to FLNA.
Mode of inheritance for gene FLNA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes (NO OMIM NUMBER); Macrothrombocytopenia for gene: FLNA
Publications for gene FLNA were changed from to 29449050; 21960593
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FLI1 Louise Daugherty Source Expert Review Green was added to FLI1.
Mode of inheritance for gene FLI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes BDPLT21; 617443.BLEEDING DISORDER, PLATELET-TYPE, 21 for gene: FLI1
Publications for gene FLI1 were changed from to 26316623; 24100448; 28255014
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FGG Louise Daugherty Source Expert Review Green was added to FGG.
Mode of inheritance for gene FGG was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG
Publications for gene FGG were changed from to 17295221; 30418131; 30349899
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FGB Louise Daugherty Source Expert Review Green was added to FGB.
Mode of inheritance for gene FGB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital; 202400 Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB
Publications for gene FGB were changed from to 1565641; 12161363; 19404555
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FGA Louise Daugherty Source Expert Review Green was added to FGA.
Mode of inheritance for gene FGA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA
Publications for gene FGA were changed from to 18771425; 23061815; 25427968
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 FERMT3 Louise Daugherty Source Expert Review Green was added to FERMT3.
Mode of inheritance for gene FERMT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3
Publications for gene FERMT3 were changed from to 20357244; 20216991
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F9 Louise Daugherty Source Expert Review Green was added to F9.
Mode of inheritance for gene F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 306900 Haemophilia B for gene: F9
Publications for gene F9 were changed from to 7937052; 22103590; 15921378
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F8 Louise Daugherty Source Expert Review Green was added to F8.
Mode of inheritance for gene F8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 306700 Haemophilia A for gene: F8
Publications for gene F8 were changed from to 22103590; 11857744; 18217193
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F7 Louise Daugherty Source Expert Review Green was added to F7.
Mode of inheritance for gene F7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 227500 Factor VII deficiency for gene: F7
Publications for gene F7 were changed from to 11129332; 21206266; 10862079
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F5 Louise Daugherty Source Expert Review Green was added to F5.
Mode of inheritance for gene F5 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5
Publications for gene F5 were changed from to 19861681; 20546033; 19486170
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F2R Louise Daugherty Source Expert Review Green was added to F2R.
Mode of inheritance for gene F2R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Type 1 VWD for gene: F2R
Publications for gene F2R were changed from to 26630678
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F13B Louise Daugherty Source Expert Review Green was added to F13B.
Mode of inheritance for gene F13B was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613235 Factor XIII deficiency for gene: F13B
Publications for gene F13B were changed from to 11313256; 8324218; 20331752
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F13A1 Louise Daugherty Source Expert Review Green was added to F13A1.
Mode of inheritance for gene F13A1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 613225 Factor XIII deficiency for gene: F13A1
Publications for gene F13A1 were changed from to 26852661; 28520207; 8555083
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F12 Louise Daugherty Source Expert Review Green was added to F12.
Mode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 234000 Factor XII deficiency; 610618 Hereditary Angioedema type III for gene: F12
Publications for gene F12 were changed from to 9354665; 20386432; 27003566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F11 Louise Daugherty Source Expert Review Green was added to F11.
Mode of inheritance for gene F11 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes 612416 Factor XI deficiency for gene: F11
Publications for gene F11 were changed from to 16835901; 24112640; 29178608
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 F10 Louise Daugherty Source Expert Review Green was added to F10.
Mode of inheritance for gene F10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 227600 Factor X deficiency for gene: F10
Publications for gene F10 were changed from to 21854511; 20331754; 9198147
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ETV6 Louise Daugherty Source Expert Review Green was added to ETV6.
Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6
Publications for gene ETV6 were changed from to 27365488; 27663637; 28555414
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 EPHB2 Louise Daugherty Source Expert Review Green was added to EPHB2.
Mode of inheritance for gene EPHB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene EPHB2 were changed from to 30213874
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ENG Louise Daugherty Source Expert Review Green was added to ENG.
Mode of inheritance for gene ENG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Publications for gene ENG were changed from to 7894484; 25970827; 30251589
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 DTNBP1 Louise Daugherty Source Expert Review Green was added to DTNBP1.
Mode of inheritance for gene DTNBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1
Publications for gene DTNBP1 were changed from to 12923531; 23364359; 28259707
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 DIAPH1 Louise Daugherty Source Expert Review Green was added to DIAPH1.
Mode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes (NO OMIM NUMBER); Macrothrombocytopenia and hearing loss for gene: DIAPH1
Publications for gene DIAPH1 were changed from to 28815995; 26912466; 27707755
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 CYCS Louise Daugherty Source Expert Review Green was added to CYCS.
Mode of inheritance for gene CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS
Publications for gene CYCS were changed from to 18345000; 27479822; 24326104
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 COL5A2 Louise Daugherty Source Expert Review Green was added to COL5A2.
Mode of inheritance for gene COL5A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 130010 Ehlers-Danlos syndrome, classic type, 2 for gene: COL5A2
Publications for gene COL5A2 were changed from to 15580559; :28485813; 25987251
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 COL5A1 Louise Daugherty Source Expert Review Green was added to COL5A1.
Mode of inheritance for gene COL5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 130000 Ehlers-Danlos syndrome, classic type, 1 for gene: COL5A1
Publications for gene COL5A1 were changed from to 22696272; 28485813; 23587214
Rating Changed from Red List (low evidence) to Green List (high evidence)
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)
Bleeding and platelet disorders v0.3 COL1A1 Louise Daugherty Source Expert Review Green was added to COL1A1.
Mode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 114000 Caffey disease; 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 for gene: COL1A1
Publications for gene COL1A1 were changed from to 27011056
Rating Changed from Red List (low evidence) to Green List (high evidence)
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 v0.3 CDC42 Louise Daugherty Source Expert Review Green was added to CDC42.
Mode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42
Publications for gene CDC42 were changed from to 26708094; 26386261; 29394990
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 BLOC1S6 Louise Daugherty Source Expert Review Green was added to BLOC1S6.
Mode of inheritance for gene BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6
Publications for gene BLOC1S6 were changed from to 22461475; 29054114
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 BLOC1S3 Louise Daugherty Source Expert Review Green was added to BLOC1S3.
Mode of inheritance for gene BLOC1S3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3
Publications for gene BLOC1S3 were changed from to 16385460; 22709368
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ARPC1B Louise Daugherty Source Expert Review Green was added to ARPC1B.
Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B
Publications for gene ARPC1B were changed from to 29127144; 28368018
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 AP3D1 Louise Daugherty Source Expert Review Green was added to AP3D1.
Mode of inheritance for gene AP3D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1
Publications for gene AP3D1 were changed from to 28936583; 26744459
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 AP3B1 Louise Daugherty Source Expert Review Green was added to AP3B1.
Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1
Publications for gene AP3B1 were changed from to 28585318; 23403622; 26684649
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ANO6 Louise Daugherty Source Expert Review Green was added to ANO6.
Mode of inheritance for gene ANO6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 262890 Scott syndrome for gene: ANO6
Publications for gene ANO6 were changed from to 21511967; 21107324; 27879994
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ANKRD26 Louise Daugherty Source Expert Review Green was added to ANKRD26.
Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26
Publications for gene ANKRD26 were changed from to 21467542; 24030261; 21211618
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ADAMTS13 Louise Daugherty Source Expert Review Green was added to ADAMTS13.
Mode of inheritance for gene ADAMTS13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Publications for gene ADAMTS13 were changed from to 15009458; 11586351; 12753286
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ACVRL1 Louise Daugherty Source Expert Review Green was added to ACVRL1.
Mode of inheritance for gene ACVRL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Publications for gene ACVRL1 were changed from to 16752392; 25970827; 30251589
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ACTN1 Louise Daugherty Source Expert Review Green was added to ACTN1.
Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1
Publications for gene ACTN1 were changed from to 25361813; 23434115; 25949529
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ACTB Louise Daugherty Source Expert Review Green was added to ACTB.
Mode of inheritance for gene ACTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes (NO OMIM NUMBER); AD thrombocytopenia for gene: ACTB
Publications for gene ACTB were changed from to 30451859
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ABCG8 Louise Daugherty Source Expert Review Green was added to ABCG8.
Mode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8
Publications for gene ABCG8 were changed from to 24166850; 27291889
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.3 ABCG5 Louise Daugherty Source Expert Review Green was added to ABCG5.
Mode of inheritance for gene ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5
Publications for gene ABCG5 were changed from to 30270055; 24623560; 27291889
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 WAS Louise Daugherty gene: WAS was added
gene: WAS was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: WAS was set to
Bleeding and platelet disorders v0.2 VWF Louise Daugherty gene: VWF was added
gene: VWF was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VWF was set to
Bleeding and platelet disorders v0.2 VPS33B Louise Daugherty gene: VPS33B was added
gene: VPS33B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VPS33B was set to
Bleeding and platelet disorders v0.2 VKORC1 Louise Daugherty gene: VKORC1 was added
gene: VKORC1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VKORC1 was set to
Bleeding and platelet disorders v0.2 VIPAS39 Louise Daugherty gene: VIPAS39 was added
gene: VIPAS39 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VIPAS39 was set to
Bleeding and platelet disorders v0.2 UNC13D Louise Daugherty gene: UNC13D was added
gene: UNC13D was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: UNC13D was set to
Bleeding and platelet disorders v0.2 TUBB1 Louise Daugherty gene: TUBB1 was added
gene: TUBB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TUBB1 was set to
Bleeding and platelet disorders v0.2 TRPM7 Louise Daugherty gene: TRPM7 was added
gene: TRPM7 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TRPM7 was set to
Bleeding and platelet disorders v0.2 TPM4 Louise Daugherty gene: TPM4 was added
gene: TPM4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TPM4 was set to
Bleeding and platelet disorders v0.2 THPO Louise Daugherty gene: THPO was added
gene: THPO was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: THPO was set to
Bleeding and platelet disorders v0.2 THBD Louise Daugherty gene: THBD was added
gene: THBD was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: THBD was set to
Bleeding and platelet disorders v0.2 TBXAS1 Louise Daugherty gene: TBXAS1 was added
gene: TBXAS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TBXAS1 was set to
Bleeding and platelet disorders v0.2 TBXA2R Louise Daugherty gene: TBXA2R was added
gene: TBXA2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TBXA2R was set to
Bleeding and platelet disorders v0.2 STXBP2 Louise Daugherty gene: STXBP2 was added
gene: STXBP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STXBP2 was set to
Bleeding and platelet disorders v0.2 STX11 Louise Daugherty gene: STX11 was added
gene: STX11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STX11 was set to
Bleeding and platelet disorders v0.2 STIM1 Louise Daugherty gene: STIM1 was added
gene: STIM1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: STIM1 was set to
Bleeding and platelet disorders v0.2 SRC Louise Daugherty gene: SRC was added
gene: SRC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SRC was set to
Bleeding and platelet disorders v0.2 SMAD4 Louise Daugherty gene: SMAD4 was added
gene: SMAD4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SMAD4 was set to
Bleeding and platelet disorders v0.2 SLFN14 Louise Daugherty gene: SLFN14 was added
gene: SLFN14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLFN14 was set to
Bleeding and platelet disorders v0.2 SLC45A2 Louise Daugherty gene: SLC45A2 was added
gene: SLC45A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC45A2 was set to
Bleeding and platelet disorders v0.2 SERPINF2 Louise Daugherty gene: SERPINF2 was added
gene: SERPINF2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINF2 was set to
Bleeding and platelet disorders v0.2 RUNX1 Louise Daugherty gene: RUNX1 was added
gene: RUNX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RUNX1 was set to
Bleeding and platelet disorders v0.2 RNU4ATAC Louise Daugherty gene: RNU4ATAC was added
gene: RNU4ATAC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RNU4ATAC was set to
Bleeding and platelet disorders v0.2 RGS2 Louise Daugherty gene: RGS2 was added
gene: RGS2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RGS2 was set to
Bleeding and platelet disorders v0.2 RBM8A Louise Daugherty gene: RBM8A was added
gene: RBM8A was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RBM8A was set to
Bleeding and platelet disorders v0.2 RASGRP2 Louise Daugherty gene: RASGRP2 was added
gene: RASGRP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RASGRP2 was set to
Bleeding and platelet disorders v0.2 PTPRJ Louise Daugherty gene: PTPRJ was added
gene: PTPRJ was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PTPRJ was set to
Bleeding and platelet disorders v0.2 PTPN11 Louise Daugherty gene: PTPN11 was added
gene: PTPN11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PTPN11 was set to
Bleeding and platelet disorders v0.2 PTGS1 Louise Daugherty gene: PTGS1 was added
gene: PTGS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PTGS1 was set to
Bleeding and platelet disorders v0.2 PRKACG Louise Daugherty gene: PRKACG was added
gene: PRKACG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PRKACG was set to
Bleeding and platelet disorders v0.2 PLAU Louise Daugherty gene: PLAU was added
gene: PLAU was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PLAU was set to
Bleeding and platelet disorders v0.2 PLA2G4A Louise Daugherty gene: PLA2G4A was added
gene: PLA2G4A was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PLA2G4A was set to
Bleeding and platelet disorders v0.2 P2RY12 Louise Daugherty gene: P2RY12 was added
gene: P2RY12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: P2RY12 was set to
Bleeding and platelet disorders v0.2 P2RX1 Louise Daugherty gene: P2RX1 was added
gene: P2RX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: P2RX1 was set to
Bleeding and platelet disorders v0.2 NBEAL2 Louise Daugherty gene: NBEAL2 was added
gene: NBEAL2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBEAL2 was set to
Bleeding and platelet disorders v0.2 NBEA Louise Daugherty gene: NBEA was added
gene: NBEA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: NBEA was set to
Bleeding and platelet disorders v0.2 MYH9 Louise Daugherty gene: MYH9 was added
gene: MYH9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MYH9 was set to
Bleeding and platelet disorders v0.2 MKL1 Louise Daugherty gene: MKL1 was added
gene: MKL1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MKL1 was set to
Bleeding and platelet disorders v0.2 MPL Louise Daugherty gene: MPL was added
gene: MPL was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MPL was set to
Bleeding and platelet disorders v0.2 MPIG6B Louise Daugherty gene: MPIG6B was added
gene: MPIG6B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MPIG6B was set to
Bleeding and platelet disorders v0.2 MECOM Louise Daugherty gene: MECOM was added
gene: MECOM was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MECOM was set to
Bleeding and platelet disorders v0.2 MCFD2 Louise Daugherty gene: MCFD2 was added
gene: MCFD2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: MCFD2 was set to
Bleeding and platelet disorders v0.2 LYST Louise Daugherty gene: LYST was added
gene: LYST was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LYST was set to
Bleeding and platelet disorders v0.2 LMAN1 Louise Daugherty gene: LMAN1 was added
gene: LMAN1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: LMAN1 was set to
Bleeding and platelet disorders v0.2 KNG1 Louise Daugherty gene: KNG1 was added
gene: KNG1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KNG1 was set to
Bleeding and platelet disorders v0.2 KLKB1 Louise Daugherty gene: KLKB1 was added
gene: KLKB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KLKB1 was set to
Bleeding and platelet disorders v0.2 KDSR Louise Daugherty gene: KDSR was added
gene: KDSR was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: KDSR was set to
Bleeding and platelet disorders v0.2 ITGB3 Louise Daugherty gene: ITGB3 was added
gene: ITGB3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ITGB3 was set to
Bleeding and platelet disorders v0.2 ITGA2B Louise Daugherty gene: ITGA2B was added
gene: ITGA2B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ITGA2B was set to
Bleeding and platelet disorders v0.2 ITGA2 Louise Daugherty gene: ITGA2 was added
gene: ITGA2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ITGA2 was set to
Bleeding and platelet disorders v0.2 HPS6 Louise Daugherty gene: HPS6 was added
gene: HPS6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS6 was set to
Bleeding and platelet disorders v0.2 HPS5 Louise Daugherty gene: HPS5 was added
gene: HPS5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS5 was set to
Bleeding and platelet disorders v0.2 HPS4 Louise Daugherty gene: HPS4 was added
gene: HPS4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS4 was set to
Bleeding and platelet disorders v0.2 HPS3 Louise Daugherty gene: HPS3 was added
gene: HPS3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS3 was set to
Bleeding and platelet disorders v0.2 HPS1 Louise Daugherty gene: HPS1 was added
gene: HPS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HPS1 was set to
Bleeding and platelet disorders v0.2 HOXA11 Louise Daugherty gene: HOXA11 was added
gene: HOXA11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HOXA11 was set to
Bleeding and platelet disorders v0.2 GP9 Louise Daugherty gene: GP9 was added
gene: GP9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP9 was set to
Bleeding and platelet disorders v0.2 GP6 Louise Daugherty gene: GP6 was added
gene: GP6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP6 was set to
Bleeding and platelet disorders v0.2 GP1BB Louise Daugherty gene: GP1BB was added
gene: GP1BB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP1BB was set to
Bleeding and platelet disorders v0.2 GP1BA Louise Daugherty gene: GP1BA was added
gene: GP1BA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GP1BA was set to
Bleeding and platelet disorders v0.2 GNE Louise Daugherty gene: GNE was added
gene: GNE was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GNE was set to
Bleeding and platelet disorders v0.2 GGCX Louise Daugherty gene: GGCX was added
gene: GGCX was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GGCX was set to
Bleeding and platelet disorders v0.2 GFI1B Louise Daugherty gene: GFI1B was added
gene: GFI1B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GFI1B was set to
Bleeding and platelet disorders v0.2 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GBA was set to
Bleeding and platelet disorders v0.2 GATA1 Louise Daugherty gene: GATA1 was added
gene: GATA1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GATA1 was set to
Bleeding and platelet disorders v0.2 GALE Louise Daugherty gene: GALE was added
gene: GALE was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GALE was set to
Bleeding and platelet disorders v0.2 FYB1 Louise Daugherty gene: FYB1 was added
gene: FYB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FYB1 was set to
Bleeding and platelet disorders v0.2 FLNA Louise Daugherty gene: FLNA was added
gene: FLNA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLNA was set to
Bleeding and platelet disorders v0.2 FLI1 Louise Daugherty gene: FLI1 was added
gene: FLI1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLI1 was set to
Bleeding and platelet disorders v0.2 FGG Louise Daugherty gene: FGG was added
gene: FGG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGG was set to
Bleeding and platelet disorders v0.2 FGB Louise Daugherty gene: FGB was added
gene: FGB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGB was set to
Bleeding and platelet disorders v0.2 FGA Louise Daugherty gene: FGA was added
gene: FGA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FGA was set to
Bleeding and platelet disorders v0.2 FERMT3 Louise Daugherty gene: FERMT3 was added
gene: FERMT3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FERMT3 was set to
Bleeding and platelet disorders v0.2 F9 Louise Daugherty gene: F9 was added
gene: F9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F9 was set to
Bleeding and platelet disorders v0.2 F8 Louise Daugherty gene: F8 was added
gene: F8 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F8 was set to
Bleeding and platelet disorders v0.2 F7 Louise Daugherty gene: F7 was added
gene: F7 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F7 was set to
Bleeding and platelet disorders v0.2 F5 Louise Daugherty gene: F5 was added
gene: F5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F5 was set to
Bleeding and platelet disorders v0.2 F2R Louise Daugherty gene: F2R was added
gene: F2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F2R was set to
Bleeding and platelet disorders v0.2 F13B Louise Daugherty gene: F13B was added
gene: F13B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F13B was set to
Bleeding and platelet disorders v0.2 F13A1 Louise Daugherty gene: F13A1 was added
gene: F13A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F13A1 was set to
Bleeding and platelet disorders v0.2 F12 Louise Daugherty gene: F12 was added
gene: F12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F12 was set to
Bleeding and platelet disorders v0.2 F11 Louise Daugherty gene: F11 was added
gene: F11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F11 was set to
Bleeding and platelet disorders v0.2 F10 Louise Daugherty gene: F10 was added
gene: F10 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F10 was set to
Bleeding and platelet disorders v0.2 ETV6 Louise Daugherty gene: ETV6 was added
gene: ETV6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ETV6 was set to
Bleeding and platelet disorders v0.2 EPHB2 Louise Daugherty gene: EPHB2 was added
gene: EPHB2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: EPHB2 was set to
Bleeding and platelet disorders v0.2 ENG Louise Daugherty gene: ENG was added
gene: ENG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ENG was set to
Bleeding and platelet disorders v0.2 DTNBP1 Louise Daugherty gene: DTNBP1 was added
gene: DTNBP1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DTNBP1 was set to
Bleeding and platelet disorders v0.2 DIAPH1 Louise Daugherty gene: DIAPH1 was added
gene: DIAPH1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: DIAPH1 was set to
Bleeding and platelet disorders v0.2 CYCS Louise Daugherty gene: CYCS was added
gene: CYCS was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CYCS was set to
Bleeding and platelet disorders v0.2 COL5A2 Louise Daugherty gene: COL5A2 was added
gene: COL5A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL5A2 was set to
Bleeding and platelet disorders v0.2 COL5A1 Louise Daugherty gene: COL5A1 was added
gene: COL5A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL5A1 was set to
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
Bleeding and platelet disorders v0.2 COL1A1 Louise Daugherty gene: COL1A1 was added
gene: COL1A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: COL1A1 was set to
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
Bleeding and platelet disorders v0.2 CDC42 Louise Daugherty gene: CDC42 was added
gene: CDC42 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CDC42 was set to
Bleeding and platelet disorders v0.2 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BLOC1S6 was set to
Bleeding and platelet disorders v0.2 BLOC1S3 Louise Daugherty gene: BLOC1S3 was added
gene: BLOC1S3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BLOC1S3 was set to
Bleeding and platelet disorders v0.2 ARPC1B Louise Daugherty gene: ARPC1B was added
gene: ARPC1B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ARPC1B was set to
Bleeding and platelet disorders v0.2 AP3D1 Louise Daugherty gene: AP3D1 was added
gene: AP3D1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH