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| Genomic screening in children: BabyScreen+ v0.91 | LDLRAP1 |
Zornitza Stark Tag cardiac tag was added to gene: LDLRAP1. Tag treatable tag was added to gene: LDLRAP1. |
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| Genomic screening in children: BabyScreen+ v0.91 | LDLR |
Zornitza Stark Tag cardiac tag was added to gene: LDLR. Tag treatable tag was added to gene: LDLR. |
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| Genomic screening in children: BabyScreen+ v0.83 | LDLR | Zornitza Stark Marked gene: LDLR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.83 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.83 | LDLR | Zornitza Stark Classified gene: LDLR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.83 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.82 | LDLR |
Zornitza Stark gene: LDLR was added gene: LDLR was added to Genomic screening in children: BabyScreen+. Sources: Expert Review Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Hypercholesterolemia, familial, 1, MIM# 143890 Review for gene: LDLR was set to GREEN Added comment: STRONG actionability in children by ClinGen. Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment. Sources: Expert Review |
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| Genomic screening in children: BabyScreen+ v0.81 | LDLRAP1 | Zornitza Stark Marked gene: LDLRAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.81 | LDLRAP1 | Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.81 | LDLRAP1 |
Zornitza Stark commented on gene: LDLRAP1: DEFINITIVE gene-disease association by ClinGen. Other FH genes have been assessed as having strong actionability in childhood by ClinGen, included for completeness. |
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| Genomic screening in children: BabyScreen+ v0.80 | Zornitza Stark Copied gene LDLRAP1 from panel Familial hypercholesterolaemia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.80 | LDLRAP1 |
Zornitza Stark gene: LDLRAP1 was added gene: LDLRAP1 was added to Genomic screening in children: BabyScreen+. Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 4351242 Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, 4, MIM# 603813 |
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