Interstitial Lung Disease
Gene: SOX18EnsemblGeneIds (GRCh38): ENSG00000203883
EnsemblGeneIds (GRCh37): ENSG00000203883
OMIM: 601618, Gene2Phenotype
SOX18 is in 9 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
At least 3 unrelated families reported with neonatal chILD, PAH and or respiratory distress syndrome.Created: 6 Nov 2021, 11:12 a.m. | Last Modified: 6 Nov 2021, 11:12 a.m.
Panel Version: 0.183
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis–lymphedema–telangiectasia syndrome (HLTS)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
- OMIM
- 601618
- Clinvar variants
- Variants in SOX18
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox18 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SOX18 were changed from to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SOX18 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SOX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOX18 was added gene: SOX18 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX18 was set to Unknown