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| BabyScreen+ newborn screening v0.1710 | LEPR | Zornitza Stark Tag endocrine tag was added to gene: LEPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1367 | INSR | Zornitza Stark Phenotypes for gene: INSR were changed from Leprechaunism to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1364 | INSR | Zornitza Stark reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968, Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.224 | LEPR | Zornitza Stark Marked gene: LEPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.224 | LEPR | Zornitza Stark Gene: lepr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.224 | LEPR | Zornitza Stark Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency to Obesity, morbid, due to leptin receptor deficiency (MIM#614963) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.223 | LEPR | Zornitza Stark Tag clinical trial tag was added to gene: LEPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.223 | LEPR | Zornitza Stark Publications for gene: LEPR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LEPR | Zornitza Stark Tag treatable tag was added to gene: LEPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LEPR |
Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability. Further clinical trial pending.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability. Further clinical trial due to recruit. |
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| BabyScreen+ newborn screening v0.222 | LEPR |
Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability. Further clinical trial pending. |
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| BabyScreen+ newborn screening v0.222 | LEPR | Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 33137293; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | LEPR | David Amor reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe early onset obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | LEPR |
Zornitza Stark gene: LEPR was added gene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency |
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| BabyScreen+ newborn screening v0.0 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism |
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