SMG9

Green SMG9 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• SMG9 Multiple Congenital Anomaly Syndrome
• Heart and brain malformation syndrome, 616920

Green SMG9 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• SMG9 Multiple Congenital Anomaly Syndrome

Amber SMG9 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber

Phenotypes

• HEART AND BRAIN MALFORMATION SYNDROME
• HBMS

Amber SMG9 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Literature
• Expert Review Amber
• Literature

Phenotypes

• Heart and brain malformation syndrome, 616920

Tags

• watchlist

Amber SMG9 in Structural eye disease

Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Amber
• London North GLH

Phenotypes

• Heart and Brain Malformation Syndrome, HBMS, 616920