SLC6A9

Green SLC6A9 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• Literature

Phenotypes

• Glycine encephalopathy with normal serum glycine, OMIM:617301

Green SLC6A9 in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• Glycine encephalopathy with normal serum glycine, OMIM:617301
• Arthrogryposis, MONDO:0008779

Green SLC6A9 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Glycine Encephalopathy with Arthrogryposis

Green SLC6A9 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review Green

Phenotypes

• Glycine encephalopathy with normal serum glycine, OMIM:617301

Green SLC6A9 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Glycine encephalopathy with normal serum glycine, 617301