Autosomal recessive congenital ichthyosis
Gene: SULT2B1
SULT2B1 (sulfotransferase family 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000088002
EnsemblGeneIds (GRCh37): ENSG00000088002
OMIM: 604125, Gene2Phenotype
SULT2B1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000088002
EnsemblGeneIds (GRCh37): ENSG00000088002
OMIM: 604125, Gene2Phenotype
SULT2B1 is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
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
- Literature
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
- Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
- OMIM
- 604125
- Clinvar variants
- Variants in SULT2B1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
28 Jan 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14 617571 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
17 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
17 Aug 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SULT2B1 was added to Autosomal recessive congenital ichthyosispanel. Sources: Literature
17 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SULT2B1 was created by sleigh