SLC26A2

solute carrier family 26 member 2
OMIM: 606718, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SLC26A2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Expert list Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Amber SLC26A2 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Skeletal dysplasia (various)
Amber SLC26A2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Achondrogenesis Ib, MIM# 600972
Green SLC26A2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achondrogenesis 1B, MIM#600972 Atelosteogenesis, type II, MIM#256050 Diastrophic dysplasia, MIM#222600 Epiphyseal dysplasia, multiple, 4, MIM#226900
Green SLC26A2 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC26A2 in Short Long Bones with Advanced Carpal Bone Age Level 2: Skeletal disorders Version 0.1	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC26A2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Emory Genetics Laboratory Phenotypes multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, 4 ACG1B,DD,rMED Multiple Epiphyseal Dysplasia, Recessive
Green SLC26A2 in Multiple epiphyseal dysplasia and pseudoachondroplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple Epiphyseal Dysplasia, Recessive multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, 4 ACG1B,DD,rMED
Green SLC26A2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achondrogenesis Ib, 600972 (3)
Green SLC26A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Achondrogenesis 1B
Green SLC26A2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Phenotypes De la Chapelle dysplasia (includes clefting), 256050 DIASTROPHIC DYSPLASIA Diastrophic dysplasia (includes clefting), 222600 Atelosteogenesis II (includes clefting), 256050 DTD Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600 McAlister Dysplasia Orofacial Clefting with skeletal features
Green SLC26A2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Achondrogenesis 1B, MIM#600972 Atelosteogenesis, type II, MIM#256050 Diastrophic dysplasia, MIM#222600 Epiphyseal dysplasia, multiple, 4, MIM#226900
Green SLC26A2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achondrogenesis Ib, 600972 (3)
Red SLC26A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Achondrogenesis 1B, MIM#600972 Tags for review
Green SLC26A2 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achondrogenesis Ib, 600972 (3)