SOX18

SRY-box 18
OMIM: 601618, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SOX18 in Hereditary haemorrhagic telangiectasia


Level 2: Respiratory
Version 3.7
Latest signed off version: v3.0 (30 Nov 2022)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Green SOX18 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
  • Hypotrichosis-lymphedema-telangiectasia syndrome
  • HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
  • HLTRS
Green SOX18 in Vascular skin disorders


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
Green SOX18 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073
  • Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
Green SOX18 in Primary lymphoedema


Level 2: Cardiology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940