| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v1.22 | BSN | Zornitza Stark Phenotypes for gene: BSN were changed from Epilepsy; developmental delay; obesity to Neurodevelopmental disorder (MONDO:0700092), BSN-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.20 | BSN |
Sinead OSullivan gene: BSN was added gene: BSN was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: BSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BSN were set to 40393460 Phenotypes for gene: BSN were set to Epilepsy; developmental delay; obesity Review for gene: BSN was set to GREEN Added comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance. They assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29). Sources: Literature |
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| Severe early-onset obesity v1.5 | LEPR |
Zornitza Stark Tag treatable tag was added to gene: LEPR. Tag clinical trial tag was added to gene: LEPR. |
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| Severe early-onset obesity v0.25 | LEPR | Zornitza Stark Marked gene: LEPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.25 | LEPR | Zornitza Stark Gene: lepr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.25 | LEPR | Zornitza Stark Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.24 | LEPR | Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.24 | LEP | Zornitza Stark Marked gene: LEP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.24 | LEP | Zornitza Stark Gene: lep has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.24 | LEP | Zornitza Stark Publications for gene: LEP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.23 | LEP | Zornitza Stark reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9202122, 12393845, 15472169, 25551525, 7984236; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM# 614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.0 | LEPR |
Zornitza Stark gene: LEPR was added gene: LEPR was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581 Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963 |
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| Severe early-onset obesity v0.0 | LEP |
Zornitza Stark gene: LEP was added gene: LEP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, OMIM:614962 |
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