Palmoplantar keratodermas
Gene: SULT2B1

SULT2B1 (sulfotransferase family 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000088002
EnsemblGeneIds (GRCh37): ENSG00000088002
OMIM: 604125, Gene2Phenotype
SULT2B1 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SULT2B1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091

OMIM

604125

Clinvar variants

Variants in SULT2B1

Penetrance

None

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

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SULT2B1.

28 Jan 2019, Gel status: 4

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