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Severe early-onset obesity v3.3 | CPE | Catherine Snow Tag Q3_21_rating was removed from gene: CPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v3.3 | CPE | Catherine Snow commented on gene: CPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v3.2 | CPE |
Catherine Snow Source Expert Review Green was added to CPE. Source NHS GMS was added to CPE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Severe early-onset obesity v2.43 | CPE | Arina Puzriakova Classified gene: CPE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.43 | CPE | Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated families (5) reported in literature presenting a relevant phenotype associated with variants in this gene to rate as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.43 | CPE | Arina Puzriakova Gene: cpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.42 | CPE | Arina Puzriakova Publications for gene: CPE were set to 26120850; 15870393; 15358678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.41 | CPE | Arina Puzriakova Tag Q3_21_rating tag was added to gene: CPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.41 | CPE |
Arina Puzriakova edited their review of gene: CPE: Added comment: Durmaz et al. 2021 (PMID: 32936766) identified the second family with 3 affected sibs with obesity, intellectual disability and hypogonadotropic hypogonadism, and a homozygous nonsense c.405C>A (p.Y135*) variant in CPE. Bosch et al. 2021 (PMID: 34383079) reported on 4 individuals from 3 additional families harbouring 2 different homozygous truncating variants in this gene. Clinical presentation was prominent for obesity and intellectual disability. Hypogonadotropic hypogonadism was confirmed in one individual and was suspected but not tested for in another two subjects.; Changed rating: GREEN; Changed publications to: 26120850, 32936766, 34383079; Changed phenotypes to: Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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Severe early-onset obesity v2.39 | CPE | Arina Puzriakova Added comment: Comment on phenotypes: CPE is now associated with a relevant phenotype in OMIM - Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v2.39 | CPE | Arina Puzriakova Phenotypes for gene: CPE were changed from obesity to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v1.22 | CPE | Ivone Leong reviewed gene: CPE: Rating: AMBER; Mode of pathogenicity: ; Publications: 26120850; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v1.22 | CPE | Ismaa Farooqi reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity v1.21 | CPE |
Ivone Leong Source Expert Review Amber was added to CPE. Publications for gene CPE were changed from 15358678; 15870393 to 26120850; 15870393; 15358678 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Severe early-onset obesity | CPE | Ellen McDonagh marked CPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity | CPE | Ellen McDonagh classified CPE as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe early-onset obesity | CPE | Ellen McDonagh commented on CPE |