Ichthyosis
Gene: SULT2B1EnsemblGeneIds (GRCh38): ENSG00000088002
EnsemblGeneIds (GRCh37): ENSG00000088002
OMIM: 604125, Gene2Phenotype
SULT2B1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Six patients from 3 unrelated families with autosomal recessive congenital ichthyosis-14, with homozygosity or compound heterozygosity for mutations in the SULTB21 gene.Created: 31 Jan 2020, 9:49 a.m. | Last Modified: 31 Jan 2020, 9:49 a.m.
Panel Version: 0.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 14 MIM#617571
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 14 MIM#617571
- OMIM
- 604125
- Clinvar variants
- Variants in SULT2B1
- 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: sult2b1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14 MIM#617571
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SULT2B1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SULT2B1 was added gene: SULT2B1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SULT2B1 was set to Unknown