| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1838 | AGPAT2 | Zornitza Stark Marked gene: AGPAT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1838 | AGPAT2 | Zornitza Stark Gene: agpat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1838 | AGPAT2 | Zornitza Stark Classified gene: AGPAT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1838 | AGPAT2 | Zornitza Stark Gene: agpat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1837 | AGPAT2 |
Zornitza Stark gene: AGPAT2 was added gene: AGPAT2 was added to gNBS. Sources: Expert list for review, treatable, endocrine tags were added to gene: AGPAT2. Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT2 were set to 29704234 Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, MIM# 608594 Review for gene: AGPAT2 was set to AMBER Added comment: Established gene-disease association. Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. Leptin replacement therapy (metreleptin) has been found to improve metabolic parameters in many patients with lipodystrophy. Metreleptin is approved in the United States as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy and has been submitted for approval elsewhere. For review regarding availability and use of treatment locally. Sources: Expert list |
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