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| Additional findings_Paediatric v0.253 | ANK2 | Zornitza Stark Phenotypes for gene: ANK2 were changed from Long QT syndrome to Complex neurodevelopmental disorder, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.251 | ANK2 | Zornitza Stark reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | HSD3B2 |
Lilian Downie gene: HSD3B2 was added gene: HSD3B2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 Review for gene: HSD3B2 was set to GREEN Added comment: Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization. Severe treatable neonatal onset disease. No reviwed by babyseq, included in NC NEXUS. Sources: Expert list |
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| Additional findings_Paediatric v0.47 | KRIT1 |
Lilian Downie gene: KRIT1 was added gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860 Review for gene: KRIT1 was set to AMBER Added comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's. Sources: Expert list |
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| Additional findings_Paediatric v0.44 | PALB2 | Zornitza Stark Phenotypes for gene: PALB2 were changed from Breast cancer to Fanconi anemia, complementation group N, MIM# 610832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.32 | PALB2 | Lilian Downie reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17200671; Phenotypes: Fanconi anemia, complementation group N MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | PYGM |
Lilian Downie gene: PYGM was added gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455 Review for gene: PYGM was set to GREEN Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria Not reviewed by Babyseq, included in NCNEXUS newborn screening list. Actionable by controlled physical activity and programmed glucose intake. Sources: Expert list |
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| Additional findings_Paediatric v0.2 | UQCRQ |
Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency |
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| Additional findings_Paediatric v0.2 | UQCRB |
Zornitza Stark gene: UQCRB was added gene: UQCRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency |
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| Additional findings_Paediatric v0.2 | PRRX1 |
Zornitza Stark gene: PRRX1 was added gene: PRRX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex |
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| Additional findings_Paediatric v0.2 | CFD |
Zornitza Stark gene: CFD was added gene: CFD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFD were set to Complement factor D deficiency |
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| Additional findings_Paediatric v0.2 | PRKAR1A |
Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Carney complex |
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| Additional findings_Paediatric v0.2 | PLEC |
Zornitza Stark gene: PLEC was added gene: PLEC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex |
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| Additional findings_Paediatric v0.2 | PDHX |
Zornitza Stark gene: PDHX was added gene: PDHX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency |
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| Additional findings_Paediatric v0.2 | MPL |
Zornitza Stark gene: MPL was added gene: MPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital |
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| Additional findings_Paediatric v0.2 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type |
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| Additional findings_Paediatric v0.2 | KRT5 |
Zornitza Stark gene: KRT5 was added gene: KRT5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex |
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| Additional findings_Paediatric v0.2 | KRT14 |
Zornitza Stark gene: KRT14 was added gene: KRT14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex |
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| Additional findings_Paediatric v0.2 | CYP11A1 | Zornitza Stark Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete for gene: CYP11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CACNA1F | Zornitza Stark Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked for gene: CACNA1F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | BRCA2 | Zornitza Stark Added phenotypes Fanconi anemia, complementation group D1 for gene: BRCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | BCS1L | Zornitza Stark Added phenotypes Complex 3 deficiency for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete |
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| Additional findings_Paediatric v0.0 | CACNA1F |
Zornitza Stark gene: CACNA1F was added gene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked |
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| Additional findings_Paediatric v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 |
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| Additional findings_Paediatric v0.0 | BCS1L |
Zornitza Stark gene: BCS1L was added gene: BCS1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Complex 3 deficiency |
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