AFF3

Green AFF3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• KINSSHIP syndrome, OMIM:619297

Amber AFF3 in Fetal anomalies

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

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• Skeletal dysplasia with severe neurological disease

Green AFF3 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

• Skeletal dysplasia with severe neurological disease

Green AFF3 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Wessex and West Midlands GLH
• NHS GMS
• Literature

Phenotypes

• KINSSHIP syndrome, OMIM:619297

Tags

• missense

Green AFF3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS
• Victorian Clinical Genetics Services

Phenotypes

• KINSSHIP syndrome, OMIM:619297

Tags

• missense