SOX18

SRY-box 18
OMIM: 601618, Gene2Phenotype

5 panels

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

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 3.5
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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 1.54
Latest signed off version: v1.3 (15 Oct 2020)

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


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.9
Latest signed off version: v3.0 (30 Nov 2022)

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