Primary pigmented nodular adrenocortical disease
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.Created: 5 Feb 2019, 3:04 p.m.
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.Created: 5 Feb 2019, 2:58 p.m.
Sources: Expert listCreated: 5 Feb 2019, 2:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACTH-independent macronodular adrenal hyperplasia 2, 615954
Phenotypes for gene: ARMC5 were changed from ACTH-independent macronodular adrenal hyperplasia 2, 615954 to ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954
Publications for gene: ARMC5 were set to
Gene: armc5 has been classified as Green List (High Evidence).
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