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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
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
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
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
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
Primary pigmented nodular adrenocortical disease v0.0 Ellen McDonagh Added Panel Primary pigmented nodular adrenocortical disease
Set panel types to: GMS Rare Disease