SLC26A2

solute carrier family 26 member 2
OMIM: 606718, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SLC26A2 in Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.7	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Musculoskeletal Version 7.25 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Musculoskeletal Version 8.40 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green SLC26A2 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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