PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
82 actions
BabyScreen+ newborn screening v1.114 SCN3B Tommy Li Added phenotypes Brugada syndrome for gene: SCN3B
BabyScreen+ newborn screening v1.114 SCN1B Tommy Li Added phenotypes Brugada syndrome for gene: SCN1B
BabyScreen+ newborn screening v1.114 RANGRF Tommy Li Added phenotypes Brugada syndrome for gene: RANGRF
BabyScreen+ newborn screening v1.114 KRT14 Tommy Li Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex, Koebner type, 131900; Dermatopathia pigmentosa reticularis, 125595 for gene: KRT14
BabyScreen+ newborn screening v1.114 KCNE3 Tommy Li Added phenotypes Brugada syndrome for gene: KCNE3
BabyScreen+ newborn screening v1.114 KCND3 Tommy Li Added phenotypes Brugada syndrome for gene: KCND3
BabyScreen+ newborn screening v1.114 HCN4 Tommy Li Added phenotypes Brugada syndrome for gene: HCN4
BabyScreen+ newborn screening v1.114 CACNB2 Tommy Li Added phenotypes Brugada syndrome for gene: CACNB2
BabyScreen+ newborn screening v1.114 CACNA2D1 Tommy Li Added phenotypes Brugada syndrome for gene: CACNA2D1
BabyScreen+ newborn screening v1.114 ADAMTSL2 Tommy Li Added phenotypes Geleophysic dysplasia 1, MIM# 231050 for gene: ADAMTSL2
BabyScreen+ newborn screening v1.114 ADAMTS2 Tommy Li Added phenotypes Ehlers-Danlos syndrome VIIc for gene: ADAMTS2
BabyScreen+ newborn screening v1.114 ADAM17 Tommy Li Added phenotypes Neonatal inflammatory skin and bowel disease for gene: ADAM17
BabyScreen+ newborn screening v1.114 SCN5A Tommy Li Added phenotypes Long QT syndrome 3 (MIM#603830); Brugada syndrome 1, MIM# 601144 for gene: SCN5A
BabyScreen+ newborn screening v1.114 GPD1L Tommy Li Added phenotypes Brugada syndrome for gene: GPD1L
BabyScreen+ newborn screening v1.114 CACNA1C Tommy Li Added phenotypes Brugada syndrome; Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 for gene: CACNA1C
BabyScreen+ newborn screening v1.114 ADAR Tommy Li Added phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 for gene: ADAR
BabyScreen+ newborn screening v1.114 ADAMTS13 Tommy Li Added phenotypes Thrombotic thrombocytopenic purpura, familial, MIM#274150 for gene: ADAMTS13
BabyScreen+ newborn screening v1.114 ADA2 Tommy Li Added phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 for gene: ADA2
BabyScreen+ newborn screening v1.114 ADA Tommy Li Added phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064 for gene: ADA
BabyScreen+ newborn screening v1.87 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: PSTPIP1.
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Review for gene: PSTPIP1 was set to GREEN
Added comment: Established gene-disease association.

Onset in childhood.

Treatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT

non-genetic confirmatory testing: no
Sources: Expert list
BabyScreen+ newborn screening v0.2132 SCN5A Zornitza Stark changed review comment from: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen.

Note LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood.

For review: age of onset and penetrance.; to: These two associations have been rated as 'strong actionability' in paediatric patients by ClinGen.

Note LongQT generally has symptom onset in adolescence and Brugada typically presents in adulthood.

Reviewed with paediatric cardiologist: generally later age of onset, does not fulfil criteria for gNBS.
BabyScreen+ newborn screening v0.1865 TANGO2 Ari Horton changed review comment from: Folate may assist with TANGO2
DOI: https://doi.org/10.21203/rs.3.rs-1778084/v1

While chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD

Fasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY

Natural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias

Specific diet and fasting plans are recommended for all patients from the neonatal period
Sources: Expert Review; to: Folate may assist with TANGO2
DOI: https://doi.org/10.21203/rs.3.rs-1778084/v1

PMID: 35568137

While chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD

Fasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY

Natural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias

Twenty-seven children were admitted for 43 cardiac crises (median age 6.4 years; interquartile range [IQR] 2.4–9.8 years) at 14 centers. During crisis, QTc prolongation occurred in all (median 547 ms; IQR 504–600 ms) and a type I Brugada pattern in 8 (26%). Arrhythmias included VT in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest. There were 10 deaths (37%), 6 related to arrhythmias. In 5 patients, recalcitrant VT occurred despite use of antiarrhythmic drugs. In 6 patients, arrhythmias were controlled after extracorporeal membrane oxygenation (ECMO) support; 5 of these patients survived. Among 10 patients who survived VT without ECMO, successful treatment included intravenous magnesium, isoproterenol, and atrial pacing in multiple cases and verapamil in 1 patient. Initiation of feeds seemed to decrease VT events.

Specific diet and fasting plans are recommended for all patients from the neonatal period
Sources: Expert Review
BabyScreen+ newborn screening v0.1746 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Long QT syndrome; Heart block, progressive, type IA, MIM# 113900 to Long QT syndrome 3 (MIM#603830); Brugada syndrome 1, MIM# 601144
BabyScreen+ newborn screening v0.1745 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 3 (MIM#603830), Brugada syndrome 1, MIM# 601144; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1425 ADA2 Zornitza Stark Tag for review was removed from gene: ADA2.
Tag treatable tag was added to gene: ADA2.
Tag immunological tag was added to gene: ADA2.
BabyScreen+ newborn screening v0.1252 ADA2 Seb Lunke Classified gene: ADA2 as Green List (high evidence)
BabyScreen+ newborn screening v0.1252 ADA2 Seb Lunke Gene: ada2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1251 ADA2 Seb Lunke Marked gene: ADA2 as ready
BabyScreen+ newborn screening v0.1251 ADA2 Seb Lunke Gene: ada2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1251 ADA2 Seb Lunke gene: ADA2 was added
gene: ADA2 was added to gNBS. Sources: Literature
for review tags were added to gene: ADA2.
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Review for gene: ADA2 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset but variable, multisystem disorder with variable severity. Onset common <5 years

Treatment: TNF inhibitor, hematopoietic stem cell transplantation, IL6 receptor antibody (tocilizumab)

Non-genetic confirmatory test: plasma ADA2 enzyme activity
Sources: Literature
BabyScreen+ newborn screening v0.1075 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
BabyScreen+ newborn screening v0.1072 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1053 ADAMTS13 Zornitza Stark Tag haematological tag was added to gene: ADAMTS13.
BabyScreen+ newborn screening v0.1053 ADA Zornitza Stark Tag immunological tag was added to gene: ADA.
BabyScreen+ newborn screening v0.728 ADAR Zornitza Stark commented on gene: ADAR: To be discussed further with neurology.
BabyScreen+ newborn screening v0.274 NOTCH3 David Amor reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.161 ATP7A Zornitza Stark changed review comment from: Well established gene-disease association.

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.

Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months.

Females are typically asymptomatic.

In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.; to: Well established gene-disease association.

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein.

Menkes disease typically presents in infancy, and if untreated is fatal. Typical age at diagnosis is ~8 months.

Females are typically asymptomatic.

In Australia, the birth incidence of MD is reported to be much higher (1/40,000-100,000 cf 1 in 300,000 elsewhere), which may be due to a founder effect.

Non-genetic confirmatory testing: serum ceruloplasmin and copper, plasma catechols

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
BabyScreen+ newborn screening v0.66 ADAMTS13 Zornitza Stark Publications for gene: ADAMTS13 were set to
BabyScreen+ newborn screening v0.65 ADAMTS13 Zornitza Stark edited their review of gene: ADAMTS13: Changed publications: 31759790
BabyScreen+ newborn screening v0.65 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
BabyScreen+ newborn screening v0.65 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
BabyScreen+ newborn screening v0.65 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.65 ADAMTS13 Zornitza Stark reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.62 ADA Zornitza Stark Marked gene: ADA as ready
BabyScreen+ newborn screening v0.62 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.62 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, MIM#102700 to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
BabyScreen+ newborn screening v0.61 ADA Zornitza Stark Publications for gene: ADA were set to
BabyScreen+ newborn screening v0.60 ADA Zornitza Stark Tag treatable tag was added to gene: ADA.
Tag clinical trial tag was added to gene: ADA.
BabyScreen+ newborn screening v0.60 ADA Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974366; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.13 ADAR Zornitza Stark Marked gene: ADAR as ready
BabyScreen+ newborn screening v0.13 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.13 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria to Aicardi-Goutieres syndrome 6, MIM# 615010
BabyScreen+ newborn screening v0.12 ADAR Zornitza Stark Publications for gene: ADAR were set to
BabyScreen+ newborn screening v0.11 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.10 ADAR Zornitza Stark Classified gene: ADAR as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.10 ADAR Zornitza Stark Gene: adar has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.9 ADAR Zornitza Stark Tag for review tag was added to gene: ADAR.
Tag treatable tag was added to gene: ADAR.
Tag clinical trial tag was added to gene: ADAR.
BabyScreen+ newborn screening v0.9 ADAR Zornitza Stark reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.9 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
BabyScreen+ newborn screening v0.9 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.9 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 to Geleophysic dysplasia 1, MIM# 231050
BabyScreen+ newborn screening v0.8 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence)
BabyScreen+ newborn screening v0.8 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.7 ADAMTSL2 Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM# 231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 SCN3B Zornitza Stark gene: SCN3B was added
gene: SCN3B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN3B were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1B were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 RANGRF Zornitza Stark gene: RANGRF was added
gene: RANGRF was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: RANGRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANGRF were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 KCNE3 Zornitza Stark gene: KCNE3 was added
gene: KCNE3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNE3 were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 HCN4 Zornitza Stark gene: HCN4 was added
gene: HCN4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCN4 were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 CACNB2 Zornitza Stark gene: CACNB2 was added
gene: CACNB2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNB2 were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 CACNA2D1 Zornitza Stark gene: CACNA2D1 was added
gene: CACNA2D1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA2D1 were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc
BabyScreen+ newborn screening v0.0 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease
BabyScreen+ newborn screening v0.0 SCN5A Zornitza Stark Source Expert Review Amber was added to SCN5A.
Source BabySeq Category B gene was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
BabyScreen+ newborn screening v0.0 GPD1L Zornitza Stark gene: GPD1L was added
gene: GPD1L was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene
Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GPD1L were set to Brugada syndrome
BabyScreen+ newborn screening v0.0 CACNA1C Zornitza Stark Source Expert Review Amber was added to CACNA1C.
Source BabySeq Category B gene was added to CACNA1C.
Added phenotypes Brugada syndrome for gene: CACNA1C
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
BabyScreen+ newborn screening v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900
BabyScreen+ newborn screening v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria
BabyScreen+ newborn screening v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1
BabyScreen+ newborn screening v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150
BabyScreen+ newborn screening v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700