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| BabyScreen+ newborn screening v0.1864 | MCFD2 |
Zornitza Stark changed review comment from: Reviewed with Meg Wall, haematologist. Treatable, including with prophylactic DDAVP, include.; to: Reviewed with Meg Wall, haematologist. Treatable, including with prophylactic DDAVP; however, generally mild, therefore exclude. |
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| BabyScreen+ newborn screening v0.1724 | ITGB3 |
Zornitza Stark gene: ITGB3 was added gene: ITGB3 was added to gNBS. Sources: ClinGen treatable, haematological tags were added to gene: ITGB3. Mode of inheritance for gene: ITGB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia 2, MIM# 619267 Review for gene: ITGB3 was set to GREEN Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen. GT can present soon after birth with episodic mucocutaneous bleeding, purpura, petechiae, unprovoked bruising, and excessive bleeding from the umbilical stump or post-circumcision. Major bleeding complications during the neonatal period, such as ICH following delivery are rare. The clinical severity of GT tends to diminish with age, although the bleeding manifestations persist and are life-long. Recombinant activated factor VII (rFVIIa) may be considered for patients with: moderate to severe acute bleeding; for treatment of refractory minor bleeds; for prophylaxis in patients with frequent severe bleeds; treatment during minor and major surgery; and in patients who are refractory to platelet transfusion. Some guidelines suggest utilizing rFVIIa as a first line therapy and saving platelet transfusion for more severe or non-responsive bleeds. High doses have been successful, particularly if used early and upfront. rFVIIa in a dose of =80 µg/kg at intervals of 2.5 h or less were observed to be safe and effective in nonsurgical bleeds, minor and major procedures in patients with or without antibodies, and/or refractoriness. The International Glanzmann Thrombasthenia Registry (GTR), published in 2015, studied 184 patients with 829 bleeding episodes and 96 patients with 206 surgical interventions. rFVIIa alone was used in 124/829 bleeds and the proportion of successful treatment to stop bleeding was 91%. In patients without antibodies/refractoriness, rFVIIa, either alone or with antifibrinolytics, and platelets±antifibrinolytics were rated 100% effective for 24 minor and 4 major procedures. The lowest effectiveness of rFVIIa treatment alone was 88.9% (16/18 effective minor procedures) in refractory patients with platelet antibodies. Desmopressin (DDAVP) may be considered as an additional treatment for mild bleeding episodes. DDAVP has been shown to be effective in many bleeding disorders, including inherited platelet function disorders. However, DDAVP efficacy among GT patients has not been established and guideline recommendations are conflicting. Sources: ClinGen |
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| BabyScreen+ newborn screening v0.1722 | ITGA2B |
Zornitza Stark gene: ITGA2B was added gene: ITGA2B was added to gNBS. Sources: ClinGen treatable, haematological tags were added to gene: ITGA2B. Mode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800 Review for gene: ITGA2B was set to GREEN Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen. GT can present soon after birth with episodic mucocutaneous bleeding, purpura, petechiae, unprovoked bruising, and excessive bleeding from the umbilical stump or post-circumcision. Major bleeding complications during the neonatal period, such as ICH following delivery are rare. The clinical severity of GT tends to diminish with age, although the bleeding manifestations persist and are life-long. Recombinant activated factor VII (rFVIIa) may be considered for patients with: moderate to severe acute bleeding; for treatment of refractory minor bleeds; for prophylaxis in patients with frequent severe bleeds; treatment during minor and major surgery; and in patients who are refractory to platelet transfusion. Some guidelines suggest utilizing rFVIIa as a first line therapy and saving platelet transfusion for more severe or non-responsive bleeds. High doses have been successful, particularly if used early and upfront. rFVIIa in a dose of =80 µg/kg at intervals of 2.5 h or less were observed to be safe and effective in nonsurgical bleeds, minor and major procedures in patients with or without antibodies, and/or refractoriness. The International Glanzmann Thrombasthenia Registry (GTR), published in 2015, studied 184 patients with 829 bleeding episodes and 96 patients with 206 surgical interventions. rFVIIa alone was used in 124/829 bleeds and the proportion of successful treatment to stop bleeding was 91%. In patients without antibodies/refractoriness, rFVIIa, either alone or with antifibrinolytics, and platelets±antifibrinolytics were rated 100% effective for 24 minor and 4 major procedures. The lowest effectiveness of rFVIIa treatment alone was 88.9% (16/18 effective minor procedures) in refractory patients with platelet antibodies. Desmopressin (DDAVP) may be considered as an additional treatment for mild bleeding episodes. DDAVP has been shown to be effective in many bleeding disorders, including inherited platelet function disorders. However, DDAVP efficacy among GT patients has not been established and guideline recommendations are conflicting. Sources: ClinGen |
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| BabyScreen+ newborn screening v0.1632 | AVPR2 | Zornitza Stark Tag endocrine tag was added to gene: AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1632 | AVP | Zornitza Stark Tag endocrine tag was added to gene: AVP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVPR2 | Zornitza Stark Tag SV/CNV tag was added to gene: AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Marked gene: AVP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Gene: avp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Classified gene: AVP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.119 | AVP | Zornitza Stark Gene: avp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.118 | AVP |
Zornitza Stark gene: AVP was added gene: AVP was added to gNBS. Sources: Expert Review treatable, clinical trial tags were added to gene: AVP. Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AVP were set to 32052034; 31238300 Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700 Review for gene: AVP was set to GREEN Added comment: Well established gene-disease association. Onset in childhood with polydipsia and polyuria. Can be life-threatening. Treatment: DDAVP. Clinical trials. Sources: Expert Review |
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| BabyScreen+ newborn screening v0.117 | AVPR2 | Zornitza Stark Marked gene: AVPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.117 | AVPR2 | Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.117 | AVPR2 |
Zornitza Stark Tag treatable tag was added to gene: AVPR2. Tag clinical trial tag was added to gene: AVPR2. |
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| BabyScreen+ newborn screening v0.117 | AVPR2 | Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 1 304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800 |
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