SLC26A2

Green SLC26A2 in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6

Sources

• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• multiple epiphyseal dysplasia
• Multiple Epiphyseal Dysplasia, Recessive
• Epiphyseal dysplasia, multiple, 4

Green SLC26A2 in Limb disorders

Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Other

Phenotypes

• Diastrophic dysplasia, broad bone-platyspondylic variant
• Diastrophic dysplasia
• Epiphyseal dysplasia, multiple, 4
• Atelosteogenesis, type II

Green SLC26A2 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
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory

Phenotypes

• ACG1B,DD,rMED
• multiple epiphyseal dysplasia
• Multiple Epiphyseal Dysplasia, Recessive
• Epiphyseal dysplasia, multiple, 4

Green SLC26A2 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
• ACHONDROGENESIS TYPE 1B
• ATELOSTEOGENESIS TYPE 2
• DIASTROPHIC DYSPLASIA

No list SLC26A2 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green SLC26A2 in DDG2P

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

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ACHONDROGENESIS TYPE 1B 600972
• MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900
• ATELOSTEOGENESIS TYPE 2 256050
• DIASTROPHIC DYSPLASIA 222600

Green SLC26A2 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 Green
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Orofacial Clefting with skeletal features
• Atelosteogenesis II (includes clefting), 256050
• De la Chapelle dysplasia (includes clefting), 256050
• McAlister Dysplasia
• Diastrophic dysplasia (includes clefting), 222600
• Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600
• DIASTROPHIC DYSPLASIA
• DTD

Amber SLC26A2 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 Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Diastrophic dysplasia, 222600
• Atelosteogenesis II, 256050
• Achondrogenesis Ib, 600972
• Epiphyseal dysplasia, multiple, 4, 226900
• Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
• De la
• Chapelle dysplasia, 256050

Green SLC26A2 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Diastrophic dysplasia, 222600
• Epiphyseal dysplasia, multiple, 4, 226900
• Achondrogenesis Ib, 600972
• De la Chapelle dysplasia, 256050
• Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
• Atelosteogenesis, type II, 256050