Congenital adrenal hypoplasia

Gene: SAMD9

Green List (high evidence)

SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 22 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
MIRAGE syndrome, 617053

Publications

Mode of pathogenicity
Other

History Filter Activity

15 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SAMD9 was created by helen.brittain

15 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

SAMD9 was added to Congenital adrenal hypoplasiapanel. Sources: Literature