Congenital adrenal hypoplasiaGene: SAMD9
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, 1:51 p.m.
Comment when marking as ready: de novo missense reported to date.
Created: 15 May 2017, 8:43 a.m.
Sufficient cases for causation. Adrenal hypoplasia a consistent feature. Note, only missense variants reported to date as causal.
Created: 15 May 2017, 8:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MIRAGE syndrome, 617053
Mode of pathogenicity
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
SAMD9 was created by helen.brittain
SAMD9 was added to Congenital adrenal hypoplasiapanel. Sources: Literature