SOX18

SRY-box 18
OMIM: 601618, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SOX18 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Green SOX18 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Green SOX18 in Lymphoedema_nonsyndromic Level 2: Cardiovascular disorders Version 0.39 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SOX18 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Green SOX18 in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Green SOX18 in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen London South GLH Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Red SOX18 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome
Green SOX18 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Red SOX18 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome