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BabyScreen+ newborn screening v1.114 TGM5 Tommy Li Added phenotypes Peeling skin syndrome 2, MIM# 609796 for gene: TGM5
BabyScreen+ newborn screening v1.114 TGM1 Tommy Li Added phenotypes Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) for gene: TGM1
BabyScreen+ newborn screening v1.114 TGIF1 Tommy Li Added phenotypes Holoprosencephaly-4 for gene: TGIF1
BabyScreen+ newborn screening v1.114 TGFB1 Tommy Li Added phenotypes Camurati-Engelmann disease for gene: TGFB1
BabyScreen+ newborn screening v1.114 ITGB4 Tommy Li Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 for gene: ITGB4
BabyScreen+ newborn screening v1.114 ITGA7 Tommy Li Added phenotypes Congenital muscular dystrophy with integrin deficiency for gene: ITGA7
BabyScreen+ newborn screening v1.114 ITGA6 Tommy Li Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis for gene: ITGA6
BabyScreen+ newborn screening v1.114 ITGA3 Tommy Li Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital for gene: ITGA3
BabyScreen+ newborn screening v1.114 GNPTG Tommy Li Added phenotypes Mucolipidosis III gamma, MIM# 252605 for gene: GNPTG
BabyScreen+ newborn screening v1.114 ACTG2 Tommy Li Added phenotypes Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 for gene: ACTG2
BabyScreen+ newborn screening v1.114 ACTG1 Tommy Li Added phenotypes Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717 for gene: ACTG1
BabyScreen+ newborn screening v1.114 TGFBR2 Tommy Li Added phenotypes Loeys-Dietz syndrome 2, MIM# 610168 for gene: TGFBR2
BabyScreen+ newborn screening v1.114 TGFBR1 Tommy Li Added phenotypes Loeys-Dietz syndrome 1, MIM# 609192 for gene: TGFBR1
BabyScreen+ newborn screening v1.114 TGFB3 Tommy Li Added phenotypes Loeys-Dietz syndrome 5 , MIM#615582 for gene: TGFB3
BabyScreen+ newborn screening v1.114 TGFB2 Tommy Li Added phenotypes Loeys-Dietz syndrome 4, MIM# 614816 for gene: TGFB2
BabyScreen+ newborn screening v1.114 TG Tommy Li Added phenotypes Thyroid dyshormonogenesis 3, MIM# 274700 for gene: TG
BabyScreen+ newborn screening v1.114 ITGB3 Tommy Li Added phenotypes Glanzmann thrombasthenia 2, MIM# 619267 for gene: ITGB3
BabyScreen+ newborn screening v1.114 ITGB2 Tommy Li Added phenotypes Leukocyte adhesion deficiency, MIM# 116920 for gene: ITGB2
BabyScreen+ newborn screening v1.114 ITGA2B Tommy Li Added phenotypes Glanzmann thrombasthaenia 1, MIM# 273800 for gene: ITGA2B
BabyScreen+ newborn screening v0.2177 DMD Zornitza Stark edited their review of gene: DMD: Added comment: Reviewed with RCH Neurology team: treatments currently not approved by the TGA. Downgrade to Amber, can be upgraded when this changes.; Changed rating: AMBER
BabyScreen+ newborn screening v0.2131 PRKG1 Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).
Sources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).

Discussed with a paediatric cardiologist: variable penetrance and age of onset, does not fulfil criteria for gNBS.
Sources: ClinGen
BabyScreen+ newborn screening v0.2130 MYH11 Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 12 individuals with MYH11 pathogenic variants indicated that 34% had an aortic dissection and one individual (8%) underwent prophylactic aortic aneurysm repair.

Reviewed with a paediatric cardiologist: variable penetrance and age of onset, does not meet criteria for gNBS.
BabyScreen+ newborn screening v0.2129 LOX Zornitza Stark changed review comment from: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.
Sources: ClinGen; to: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.

Discussed with paediatric cardiologist: variable penetrance and age of onset, does not fit with criteria for gNBS.
Sources: ClinGen
BabyScreen+ newborn screening v0.1832 TGFB3 Zornitza Stark Tag for review was removed from gene: TGFB3.
BabyScreen+ newborn screening v0.1832 TGFB2 Zornitza Stark Tag for review was removed from gene: TGFB2.
BabyScreen+ newborn screening v0.1781 PRKG1 Zornitza Stark gene: PRKG1 was added
gene: PRKG1 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: PRKG1.
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM#615436
Penetrance for gene: PRKG1 were set to Incomplete
Review for gene: PRKG1 was set to AMBER
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).
Sources: ClinGen
BabyScreen+ newborn screening v0.1778 LOX Zornitza Stark gene: LOX was added
gene: LOX was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: LOX.
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM#617168
Penetrance for gene: LOX were set to Incomplete
Review for gene: LOX was set to AMBER
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.
Sources: ClinGen
BabyScreen+ newborn screening v0.1743 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
BabyScreen+ newborn screening v0.1743 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1743 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from Arrhythmogenic right ventricular dysplasia to Loeys-Dietz syndrome 5 , MIM#615582
BabyScreen+ newborn screening v0.1742 TGFB3 Zornitza Stark Classified gene: TGFB3 as Green List (high evidence)
BabyScreen+ newborn screening v0.1742 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1741 TGFB3 Zornitza Stark Tag for review tag was added to gene: TGFB3.
Tag cardiac tag was added to gene: TGFB3.
Tag treatable tag was added to gene: TGFB3.
BabyScreen+ newborn screening v0.1741 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5 , MIM#615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1741 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
BabyScreen+ newborn screening v0.1741 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1741 TGFB2 Zornitza Stark Classified gene: TGFB2 as Green List (high evidence)
BabyScreen+ newborn screening v0.1741 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1740 TGFB2 Zornitza Stark Tag for review tag was added to gene: TGFB2.
Tag cardiac tag was added to gene: TGFB2.
Tag treatable tag was added to gene: TGFB2.
BabyScreen+ newborn screening v0.1740 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to gNBS. Sources: ClinGen
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816
Review for gene: TGFB2 was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms which are the major source of morbidity and mortality. Aortic growth can be faster than 10mm per year. Aortic dissection has been observed in early childhood, and the mean age of death is 26 years. Other life-threatening manifestations include spontaneous rupture of the spleen, bowel, and uterine rupture during pregnancy.

Prophylactic surgical repair is typically recommended at an aortic diameter of ≥ 4.2 cm.

Beta-blockers or other medications can be used to reduce hemodynamic stress.

Consider Medicalert bracelet.

Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic regurgitation who are undergoing dental work or other procedures expected to contaminate the bloodstream with bacteria.

Because of a high risk of cervical spine instability, a flexion and extension x-ray of the cervical spine should be performed prior to intubation or any other procedure involving manipulation of the neck.
Sources: ClinGen
BabyScreen+ newborn screening v0.1725 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
BabyScreen+ newborn screening v0.1725 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1725 ITGB3 Zornitza Stark Classified gene: ITGB3 as Green List (high evidence)
BabyScreen+ newborn screening v0.1725 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
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
BabyScreen+ newborn screening v0.1723 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
BabyScreen+ newborn screening v0.1723 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1723 ITGA2B Zornitza Stark Classified gene: ITGA2B as Green List (high evidence)
BabyScreen+ newborn screening v0.1723 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
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
BabyScreen+ newborn screening v0.1672 TG Zornitza Stark Marked gene: TG as ready
BabyScreen+ newborn screening v0.1672 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1672 TG Zornitza Stark Phenotypes for gene: TG were changed from Thyroid dyshormonogenesis 3 to Thyroid dyshormonogenesis 3, MIM# 274700
BabyScreen+ newborn screening v0.1671 TG Zornitza Stark Publications for gene: TG were set to
BabyScreen+ newborn screening v0.1670 TG Zornitza Stark Tag treatable tag was added to gene: TG.
Tag endocrine tag was added to gene: TG.
BabyScreen+ newborn screening v0.1670 TG Zornitza Stark reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1670 TGM5 Zornitza Stark Marked gene: TGM5 as ready
BabyScreen+ newborn screening v0.1670 TGM5 Zornitza Stark Gene: tgm5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1670 TGM5 Zornitza Stark Phenotypes for gene: TGM5 were changed from Peeling skin syndrome, acral type to Peeling skin syndrome 2, MIM# 609796
BabyScreen+ newborn screening v0.1669 TGM5 Zornitza Stark Classified gene: TGM5 as Red List (low evidence)
BabyScreen+ newborn screening v0.1669 TGM5 Zornitza Stark Gene: tgm5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1668 TGM5 Zornitza Stark reviewed gene: TGM5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1668 TGM1 Zornitza Stark Marked gene: TGM1 as ready
BabyScreen+ newborn screening v0.1668 TGM1 Zornitza Stark Gene: tgm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1668 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
BabyScreen+ newborn screening v0.1667 TGM1 Zornitza Stark Classified gene: TGM1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1667 TGM1 Zornitza Stark Gene: tgm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1666 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 1 (MIM#242300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1666 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
BabyScreen+ newborn screening v0.1666 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1666 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 2, MIM# 610168
BabyScreen+ newborn screening v0.1665 TGFBR2 Zornitza Stark Tag cardiac tag was added to gene: TGFBR2.
Tag treatable tag was added to gene: TGFBR2.
BabyScreen+ newborn screening v0.1665 TGFBR2 Zornitza Stark edited their review of gene: TGFBR2: Changed phenotypes: Loeys-Dietz syndrome 2, MIM# 610168
BabyScreen+ newborn screening v0.1665 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1665 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
BabyScreen+ newborn screening v0.1665 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1665 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 1, MIM# 609192
BabyScreen+ newborn screening v0.1664 TGFBR1 Zornitza Stark Tag cardiac tag was added to gene: TGFBR1.
Tag treatable tag was added to gene: TGFBR1.
BabyScreen+ newborn screening v0.1664 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1635 TG John Christodoulou reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: goitre; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1302 GNPTG Zornitza Stark Marked gene: GNPTG as ready
BabyScreen+ newborn screening v0.1302 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1302 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma to Mucolipidosis III gamma, MIM# 252605
BabyScreen+ newborn screening v0.1301 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
BabyScreen+ newborn screening v0.1300 GNPTG Zornitza Stark Classified gene: GNPTG as Red List (low evidence)
BabyScreen+ newborn screening v0.1300 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1299 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1234 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
BabyScreen+ newborn screening v0.1234 ITGA3 Zornitza Stark Gene: itga3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1234 ITGA3 Zornitza Stark Classified gene: ITGA3 as Red List (low evidence)
BabyScreen+ newborn screening v0.1234 ITGA3 Zornitza Stark Gene: itga3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1233 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1233 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
BabyScreen+ newborn screening v0.1233 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1233 ITGB2 Zornitza Stark Tag treatable tag was added to gene: ITGB2.
Tag immunological tag was added to gene: ITGB2.
BabyScreen+ newborn screening v0.1233 ITGB2 Zornitza Stark reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, MIM# 116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1233 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
BabyScreen+ newborn screening v0.1233 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1233 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
BabyScreen+ newborn screening v0.1232 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1231 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
BabyScreen+ newborn screening v0.1231 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1230 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GNPTG John Christodoulou reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301784; Phenotypes: Growth rate deceleration, Joint stiffness of the fingers, shoulders, and hips, Gradual mild coarsening of facial features, Genu valgum, scoliosis, hyperlordosis, mitral valve thickening; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.485 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
BabyScreen+ newborn screening v0.485 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.485 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome; Deafness, autosomal dominant to Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
BabyScreen+ newborn screening v0.484 ACTG1 Zornitza Stark Classified gene: ACTG1 as Red List (low evidence)
BabyScreen+ newborn screening v0.484 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.483 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.5 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
BabyScreen+ newborn screening v0.5 ACTG2 Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.5 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome to Visceral myopathy, MIM#155310; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
BabyScreen+ newborn screening v0.4 ACTG2 Zornitza Stark Classified gene: ACTG2 as Red List (low evidence)
BabyScreen+ newborn screening v0.4 ACTG2 Zornitza Stark Gene: actg2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.3 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Visceral myopathy, MIM#155310, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4
BabyScreen+ newborn screening v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia
BabyScreen+ newborn screening v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease
BabyScreen+ newborn screening v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency
BabyScreen+ newborn screening v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis
BabyScreen+ newborn screening v0.0 TGM5 Zornitza Stark gene: TGM5 was added
gene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type
BabyScreen+ newborn screening v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive
BabyScreen+ newborn screening v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome
BabyScreen+ newborn screening v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome
BabyScreen+ newborn screening v0.0 TG Zornitza Stark gene: TG was added
gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3
BabyScreen+ newborn screening v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia
BabyScreen+ newborn screening v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920
BabyScreen+ newborn screening v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
BabyScreen+ newborn screening v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma
BabyScreen+ newborn screening v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
BabyScreen+ newborn screening v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant