SOX9

SRY-box 9
OMIM: 608160, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SOX9 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	2 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green SOX9 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Campomelic dysplasia, MIM# 114290 Campomelic dysplasia, MONDO:0007251 Acampomelic campomelic dysplasia, MIM # 114290, 46XX sex reversal 2, MIM# 278850 46XY sex reversal 10, MIM # 616425
Green SOX9 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Campomelic dysplasia, MIM# 114290 Campomelic dysplasia, MONDO:0007251
Amber SOX9 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes campomelic dysplasia MONDO:0007251
Green SOX9 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Campomelic dysplasia with autosomal sex reversal 114290 Campomelic dysplasia 114290 Acampomelic campomelic dysplasia 114290
Green SOX9 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Campomelic dysplasia
Green SOX9 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes CAMPOMELIC DYSPLASIA,114290 Campomelic dysplasia with autosomal sex reversal, 114290 CAMPOMELIC DYSPLASIA Cleft palate Cleft palate with skeletal abnormalities Orofacial Clefting with Skeletal Features Acampomelic campomelic dysplasia, 114290
Green SOX9 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Campomelic dysplasia with autosomal sex reversal 114290
Green SOX9 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Campomelic dysplasia with autosomal sex reversal (MIM#114290) Campomelic dysplasia (MIM#114290) Acampomelic campomelic dysplasia (MIM#114290)
Red SOX9 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Campomelic dysplasia, MIM# 114290