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Primary pigmented nodular adrenocortical disease v1.7 | PRKAR1A | Ivone Leong Phenotypes for gene: PRKAR1A were changed from Pigmented nodular adrenocortical disease, primary, 1, 610489 to Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v1.6 | PDE8B | Ivone Leong Phenotypes for gene: PDE8B were changed from Pigmented nodular adrenocortical disease, primary, 3, 614190 to Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v1.5 | PDE11A | Ivone Leong Phenotypes for gene: PDE11A were changed from Pigmented nodular adrenocortical disease, primary, 2, 610475 to Pigmented nodular adrenocortical disease, primary, 2, OMIM:610475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v1.4 | ARMC5 | Ivone Leong Phenotypes for gene: ARMC5 were changed from ACTH-independent macronodular adrenal hyperplasia 2, 615954 to ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.10 |
Ivone Leong List of related panels changed from to R160 Panel types changed to GMS Rare Disease; GMS signed-off |
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Primary pigmented nodular adrenocortical disease v0.9 | ARMC5 | Ivone Leong commented on gene: ARMC5: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.9 | ARMC5 | Ivone Leong Publications for gene: ARMC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.8 | ARMC5 | Ivone Leong Classified gene: ARMC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.8 | ARMC5 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green. There are >3 unrelated cases on OMIM related to this gene. This gene has also been included in this panel as suggested by the GMS Endocrinology Specialist Test Group during the webex call on 28th Jan 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.8 | ARMC5 | Ivone Leong Gene: armc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.7 | ARMC5 |
Ivone Leong gene: ARMC5 was added gene: ARMC5 was added to Primary pigmented nodular adrenocortical disease. Sources: Expert list Mode of inheritance for gene: ARMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARMC5 were set to ACTH-independent macronodular adrenal hyperplasia 2, 615954 Review for gene: ARMC5 was set to GREEN Added comment: Sources: Expert list |
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Primary pigmented nodular adrenocortical disease v0.6 | PRKAR1A | Ivone Leong commented on gene: PRKAR1A: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.6 | PDE8B | Ivone Leong commented on gene: PDE8B: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.6 | PDE11A | Ivone Leong commented on gene: PDE11A: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.6 | PDE8B | Ivone Leong Classified gene: PDE8B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.6 | PDE8B | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.6 | PDE8B | Ivone Leong Gene: pde8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.5 | PDE11A | Ivone Leong Classified gene: PDE11A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.5 | PDE11A | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.5 | PDE11A | Ivone Leong Gene: pde11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.4 | PRKAR1A | Ivone Leong Classified gene: PRKAR1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.4 | PRKAR1A | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.4 | PRKAR1A | Ivone Leong Gene: prkar1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.3 | PDE11A | Martina Owens reviewed gene: PDE11A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767104; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2, 610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.3 | PDE8B | Martina Owens reviewed gene: PDE8B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18272904; Phenotypes: Pigmented nodular adrenocortical disease, primary, 3, 614190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.3 | PRKAR1A | Martina Owens reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12213893; Phenotypes: Pigmented nodular adrenocortical disease, primary, 1, 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary pigmented nodular adrenocortical disease v0.2 | PDE11A |
Ivone Leong gene: PDE11A was added gene: PDE11A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS Mode of inheritance for gene: PDE11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE11A were set to 16767104 Phenotypes for gene: PDE11A were set to Pigmented nodular adrenocortical disease, primary, 2, 610475 |
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Primary pigmented nodular adrenocortical disease v0.2 | PDE8B |
Ivone Leong gene: PDE8B was added gene: PDE8B was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE8B were set to 18272904 Phenotypes for gene: PDE8B were set to Pigmented nodular adrenocortical disease, primary, 3, 614190 |
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Primary pigmented nodular adrenocortical disease v0.2 | PRKAR1A |
Ivone Leong gene: PRKAR1A was added gene: PRKAR1A was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAR1A were set to 12213893 Phenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1, 610489 |
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Primary pigmented nodular adrenocortical disease v0.0 |
Ellen McDonagh Added Panel Primary pigmented nodular adrenocortical disease Set panel types to: GMS Rare Disease |