Ichthyosis and erythrokeratoderma

Gene: SULT2B1

Green List (high evidence)

SULT2B1 (sulfotransferase family 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000088002
EnsemblGeneIds (GRCh37): ENSG00000088002
OMIM: 604125, Gene2Phenotype
SULT2B1 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 4 variants reported in three cases (2 different homozygous variants in 2 families) and 2 different variants as compound heterozygotes in one case.
Created: 17 Aug 2017, 3:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 14 617571

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14 617571
OMIM
604125
Clinvar variants
Variants in SULT2B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SULT2B1 was added gene: SULT2B1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SULT2B1 were set to 28575648 Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 617571